-
Autor
Straka, Barbora 2 Aichholzer, Martin 1 Aronica, Eleonora 1 Arzimanoglou, Alexis A 1 Balascakova, Miroslava 1 Barba, Carmen 1 Becker, Albert J 1 Beckervordersandforth, Jan 1 Bien, Christian G 1 Blumcke, Ingmar 1 Bodi, Istvan 1 Braun, Kees P 1 Buccoliero, Anna Maria 1 Catenoix, Hélène 1 Chassoux, Francine 1 Chipaux, Mathilde 1 Cloppenborg, Thomas 1 Coras, Roland 1 Cross, J Helen 1 De Palma, Luca 1
- Organizace
-
Pracoviště
2nd Faculty of Medicine Charles Unive... 1 Department of Biology and Medical Gen... 1 Department of Clinical Psychology Mot... 1 Department of Neurosurgery Motol Univ... 1 Department of Paediatric Neurology 2n... 1 Department of Paediatric Neurology Mo... 1 Department of Pathology and Molecular... 1 Department of Radiology Motol Univers... 1 From the Department of Child Neurolog... 1
- Publikační typ
- Check Tag
- Kategorie
- Jazyk
- Země
- Časopis/zdroj
- Grantová agentura
- Nejvíce citované
-
Autor
Straka, Barbora 2 Aichholzer, Martin 1 Aronica, Eleonora 1 Arzimanoglou, Alexis A 1 Balascakova, Miroslava 1 Barba, Carmen 1 Becker, Albert J 1 Beckervordersandforth, Jan 1 Bien, Christian G 1 Blumcke, Ingmar 1 Bodi, Istvan 1 Braun, Kees P 1 Buccoliero, Anna Maria 1 Catenoix, Hélène 1 Chassoux, Francine 1 Chipaux, Mathilde 1 Cloppenborg, Thomas 1 Coras, Roland 1 Cross, J Helen 1 De Palma, Luca 1
- Organizace
-
Pracoviště
2nd Faculty of Medicine Charles Unive... 1 Department of Biology and Medical Gen... 1 Department of Clinical Psychology Mot... 1 Department of Neurosurgery Motol Univ... 1 Department of Paediatric Neurology 2n... 1 Department of Paediatric Neurology Mo... 1 Department of Pathology and Molecular... 1 Department of Radiology Motol Univers... 1 From the Department of Child Neurolog... 1
- Publikační typ
- Check Tag
- Kategorie
- Jazyk
- Země
- Časopis/zdroj
- Grantová agentura
- Nejvíce citované
Nejvíce citovaný článek - PubMed ID 31819917
-
Sanders, Maurits W
Autor Sanders, Maurits W ORCID From the Department of Child Neurology (M.W.S, I.V.d.W., F.E.J, K.P.B.), Member of EpiCARE ERN, University Medical Center Utrecht, Utrecht; Department of (Neuro)Pathology (E.A.), Amsterdam Neuroscience, Amsterdam UMC, University of Amsterdam; Stichting Epilepsie Instellingen Nederland (SEIN) (E.A.), Heemstede, The Netherlands; Department of Epileptology (C.H., A.R., R.S.); Department of Neurosurgery (A.G.), University of Bonn Medical Center, Germany; Department of Neurosurgery (A.G.), Epilepsy Center Hessen, Philipps University, Marburgy; Department of Neuropathology (A.J.B.), University of Bonn Medical Center, Germany; Department of Functional Neurology and Epileptology (Sylvain Rheims, H.C.), Hospices Civils de Lyon and University of Lyon; Lyon's Neurosciences Research Center (INSERM U1028 / CNRS UMR5292) (Sylvain Rheims, Catenoix Hélène), France; UCL Queen Square Institute of Neurology, Department of Clinical and Experimental Epilepsy and National Hospital for Neurology and Neurosurgery (J.S.D., J.D.T.); Developmental Biology and Cancer Programme (T.S.J.), UCL Great Ormond Street Institute of Child Health and the Department of Histopathology, Great Ormond Street Hospital for Children, London; UCL- NIHR BRC Great Ormond Street Institute of Child Health (J.H.C.), Great Ormond Street Hospital for Children, Lingfield, United Kingdom; Kuopio Epilepsy Center (R.K., T.R.), Kuopio University Hospital and University of Eastern Finland; Department of Pathology (R.K., T.R.), Kuopio University Hospital and University of Eastern Finland, Member of EpiCARE ERN, Kuopio, Finland; Hospital Sainte-Anne (F.C., B.C.D.), GHU-Paris, France; IRCCS NEUROMED (G.D.G., V.E.), Pozzilli (IS), Italy; Department of Neurosurgery (V.E.), Sapienza University of Rome, Italy; Department of Clinical Neuropathology (Istvan Bodi, M.H.), King's College Hospital NHS Foundation Trust, Academic Neuroscience Center, Denmark Hill, King's College Hospital, London, United Kingdom; Department of Epileptology (Krankenhaus Mara) (C.G.B., T.C.), Medical School, Campus Bielefeld-Bethel, Bielefeld University; Department of Neuropathology (R.C.); Epilepsy Center (H.M.H.), University Hospital Erlangen, Germany; Department of Neurology (P.M., A.K.), Motol Epilepsy Center, Second Medical Faculty, Charles University, Motol University Hospital, Prague, Czech Republic; Center for Pediatric Neurology, Neurorehabilitation, and Epileptology (T.P., M.K.), Schoen-Clinic, Vogtareuth, Germany; Research Institute "Rehabilitation, Transition, Palliation" (M.K.), PMU Salzburg, Austria; Department of Neurology I (T.J.V.O.), Neuromed Campus, Kepler Universitätsklinikum; Faculty of Medicine (T.J.V.O., M.A.), Johannes Kepler University; Department of Neurosurgery (M.A.), Neuromed Campus, Kepler Universitätsklinikum, Linz, Austria; Pediatric Neurosurgery Department (M.C.), Foundation Rothschild Hospital, Paris, France; Epilepsy Center (S.N., E.K.), Department of Neurology, Ludwig-Maximilians University, Munich, Germany; Epilepsy Centre (A.S.-B.); Department of Neurosurgery (C.F.S.), University Hospital, Freiburg, Germany; Department of Neurology (C.O.), Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Turkey; Swiss Epilepsy Center and Department of Neurology (K.K.), University Hospital, Zurich, Switzerland; Neuroscience Department (Renzo Guerrini, C.B.), Pathology Unit (A.M.B.), and Neurosurgery Department (F.G.), Meyer Children's Hospital IRCCS, Florence, Italy; University of Florence (Renzo Guerrini, C.B., F.G.), Florence, Italy; Epilepsy Center Frankfurt Rhine-Main (F.R.), Department of Neurology, and LOEWE Center for Personalized Translational Epilepsy Research (CePTER), Goethe University Frankfurt, Frankfurt am Main; Department of Neurology (F.R., K.M.), Epilepsy Center Hessen, Philipps University, Marburg, Germany; Epilepsy Unit (Rita Garbelli, F.D.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy; Department of Pediatric Neurology (P.K., B.S.), Motol Epilepsy Center, Second Medical Faculty, Charles University, Motol University Hospital, Prague, Czech Republic; Department of Pediatric Clinical Epileptology (A.A.A., J.T.), Sleep Disorders and Functional Neurology University Hospitals of Lyon (HCL), Lyon, France; Paediatric Epilepsy Unit (A.A.A., V.S.A.-A., J.R.), Child Neurology Department and Neurosurgery Department, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Neurology (W.V.P.); Department of Neurosurgery (T.T.), University Hospital Leuven, Belgium; Laboratory of Neuropathology (J.P., I.M.L.D.A.), Department of Neurosciences and Mental Health, Department of Neurology, Hospital de Santa Maria (CHULN)Lisbon, Portugal; Clinical and Experimental Neurology (N.S., L.D.P.), Bambino Gesu' Children's Hospital, IRCCS, Rome, Italy; Center for Rare and Complex Epilepsies (M.F., T.S.), Department of Pediatrics and Adolescent Medicine; Department of Neurosurgery (K.R.), Medical University of Vienna, Austria; Epilepsy Program (R.T.D., A.G.-N.), Hospital Ruber Internacional, Madrid, Spain; Laboratory for Neuropathology (Savo Raicevic), Department of Pathology; Department for Epilepsy (A.J.R.), Clinic of Neurology, Clinical Center of Serbia, Belgrade; Medical Faculty (A.J.R.), University of Belgrade, Serbia; Department of Neurosurgery (O.S.), Academic Center for Epileptology; Department of Pathology (J.B.), Maastricht University Medical Center, The Netherlands; and University Hospital Erlangen (Ingmar Blumcke), Neuropathology, Erlangen, Germany
-
Van der Wolf, Iskander
Autor Van der Wolf, Iskander ORCID From the Department of Child Neurology (M.W.S, I.V.d.W., F.E.J, K.P.B.), Member of EpiCARE ERN, University Medical Center Utrecht, Utrecht; Department of (Neuro)Pathology (E.A.), Amsterdam Neuroscience, Amsterdam UMC, University of Amsterdam; Stichting Epilepsie Instellingen Nederland (SEIN) (E.A.), Heemstede, The Netherlands; Department of Epileptology (C.H., A.R., R.S.); Department of Neurosurgery (A.G.), University of Bonn Medical Center, Germany; Department of Neurosurgery (A.G.), Epilepsy Center Hessen, Philipps University, Marburgy; Department of Neuropathology (A.J.B.), University of Bonn Medical Center, Germany; Department of Functional Neurology and Epileptology (Sylvain Rheims, H.C.), Hospices Civils de Lyon and University of Lyon; Lyon's Neurosciences Research Center (INSERM U1028 / CNRS UMR5292) (Sylvain Rheims, Catenoix Hélène), France; UCL Queen Square Institute of Neurology, Department of Clinical and Experimental Epilepsy and National Hospital for Neurology and Neurosurgery (J.S.D., J.D.T.); Developmental Biology and Cancer Programme (T.S.J.), UCL Great Ormond Street Institute of Child Health and the Department of Histopathology, Great Ormond Street Hospital for Children, London; UCL- NIHR BRC Great Ormond Street Institute of Child Health (J.H.C.), Great Ormond Street Hospital for Children, Lingfield, United Kingdom; Kuopio Epilepsy Center (R.K., T.R.), Kuopio University Hospital and University of Eastern Finland; Department of Pathology (R.K., T.R.), Kuopio University Hospital and University of Eastern Finland, Member of EpiCARE ERN, Kuopio, Finland; Hospital Sainte-Anne (F.C., B.C.D.), GHU-Paris, France; IRCCS NEUROMED (G.D.G., V.E.), Pozzilli (IS), Italy; Department of Neurosurgery (V.E.), Sapienza University of Rome, Italy; Department of Clinical Neuropathology (Istvan Bodi, M.H.), King's College Hospital NHS Foundation Trust, Academic Neuroscience Center, Denmark Hill, King's College Hospital, London, United Kingdom; Department of Epileptology (Krankenhaus Mara) (C.G.B., T.C.), Medical School, Campus Bielefeld-Bethel, Bielefeld University; Department of Neuropathology (R.C.); Epilepsy Center (H.M.H.), University Hospital Erlangen, Germany; Department of Neurology (P.M., A.K.), Motol Epilepsy Center, Second Medical Faculty, Charles University, Motol University Hospital, Prague, Czech Republic; Center for Pediatric Neurology, Neurorehabilitation, and Epileptology (T.P., M.K.), Schoen-Clinic, Vogtareuth, Germany; Research Institute "Rehabilitation, Transition, Palliation" (M.K.), PMU Salzburg, Austria; Department of Neurology I (T.J.V.O.), Neuromed Campus, Kepler Universitätsklinikum; Faculty of Medicine (T.J.V.O., M.A.), Johannes Kepler University; Department of Neurosurgery (M.A.), Neuromed Campus, Kepler Universitätsklinikum, Linz, Austria; Pediatric Neurosurgery Department (M.C.), Foundation Rothschild Hospital, Paris, France; Epilepsy Center (S.N., E.K.), Department of Neurology, Ludwig-Maximilians University, Munich, Germany; Epilepsy Centre (A.S.-B.); Department of Neurosurgery (C.F.S.), University Hospital, Freiburg, Germany; Department of Neurology (C.O.), Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Turkey; Swiss Epilepsy Center and Department of Neurology (K.K.), University Hospital, Zurich, Switzerland; Neuroscience Department (Renzo Guerrini, C.B.), Pathology Unit (A.M.B.), and Neurosurgery Department (F.G.), Meyer Children's Hospital IRCCS, Florence, Italy; University of Florence (Renzo Guerrini, C.B., F.G.), Florence, Italy; Epilepsy Center Frankfurt Rhine-Main (F.R.), Department of Neurology, and LOEWE Center for Personalized Translational Epilepsy Research (CePTER), Goethe University Frankfurt, Frankfurt am Main; Department of Neurology (F.R., K.M.), Epilepsy Center Hessen, Philipps University, Marburg, Germany; Epilepsy Unit (Rita Garbelli, F.D.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy; Department of Pediatric Neurology (P.K., B.S.), Motol Epilepsy Center, Second Medical Faculty, Charles University, Motol University Hospital, Prague, Czech Republic; Department of Pediatric Clinical Epileptology (A.A.A., J.T.), Sleep Disorders and Functional Neurology University Hospitals of Lyon (HCL), Lyon, France; Paediatric Epilepsy Unit (A.A.A., V.S.A.-A., J.R.), Child Neurology Department and Neurosurgery Department, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Neurology (W.V.P.); Department of Neurosurgery (T.T.), University Hospital Leuven, Belgium; Laboratory of Neuropathology (J.P., I.M.L.D.A.), Department of Neurosciences and Mental Health, Department of Neurology, Hospital de Santa Maria (CHULN)Lisbon, Portugal; Clinical and Experimental Neurology (N.S., L.D.P.), Bambino Gesu' Children's Hospital, IRCCS, Rome, Italy; Center for Rare and Complex Epilepsies (M.F., T.S.), Department of Pediatrics and Adolescent Medicine; Department of Neurosurgery (K.R.), Medical University of Vienna, Austria; Epilepsy Program (R.T.D., A.G.-N.), Hospital Ruber Internacional, Madrid, Spain; Laboratory for Neuropathology (Savo Raicevic), Department of Pathology; Department for Epilepsy (A.J.R.), Clinic of Neurology, Clinical Center of Serbia, Belgrade; Medical Faculty (A.J.R.), University of Belgrade, Serbia; Department of Neurosurgery (O.S.), Academic Center for Epileptology; Department of Pathology (J.B.), Maastricht University Medical Center, The Netherlands; and University Hospital Erlangen (Ingmar Blumcke), Neuropathology, Erlangen, Germany
-
Jansen, Floor E
Autor Jansen, Floor E ORCID From the Department of Child Neurology (M.W.S, I.V.d.W., F.E.J, K.P.B.), Member of EpiCARE ERN, University Medical Center Utrecht, Utrecht; Department of (Neuro)Pathology (E.A.), Amsterdam Neuroscience, Amsterdam UMC, University of Amsterdam; Stichting Epilepsie Instellingen Nederland (SEIN) (E.A.), Heemstede, The Netherlands; Department of Epileptology (C.H., A.R., R.S.); Department of Neurosurgery (A.G.), University of Bonn Medical Center, Germany; Department of Neurosurgery (A.G.), Epilepsy Center Hessen, Philipps University, Marburgy; Department of Neuropathology (A.J.B.), University of Bonn Medical Center, Germany; Department of Functional Neurology and Epileptology (Sylvain Rheims, H.C.), Hospices Civils de Lyon and University of Lyon; Lyon's Neurosciences Research Center (INSERM U1028 / CNRS UMR5292) (Sylvain Rheims, Catenoix Hélène), France; UCL Queen Square Institute of Neurology, Department of Clinical and Experimental Epilepsy and National Hospital for Neurology and Neurosurgery (J.S.D., J.D.T.); Developmental Biology and Cancer Programme (T.S.J.), UCL Great Ormond Street Institute of Child Health and the Department of Histopathology, Great Ormond Street Hospital for Children, London; UCL- NIHR BRC Great Ormond Street Institute of Child Health (J.H.C.), Great Ormond Street Hospital for Children, Lingfield, United Kingdom; Kuopio Epilepsy Center (R.K., T.R.), Kuopio University Hospital and University of Eastern Finland; Department of Pathology (R.K., T.R.), Kuopio University Hospital and University of Eastern Finland, Member of EpiCARE ERN, Kuopio, Finland; Hospital Sainte-Anne (F.C., B.C.D.), GHU-Paris, France; IRCCS NEUROMED (G.D.G., V.E.), Pozzilli (IS), Italy; Department of Neurosurgery (V.E.), Sapienza University of Rome, Italy; Department of Clinical Neuropathology (Istvan Bodi, M.H.), King's College Hospital NHS Foundation Trust, Academic Neuroscience Center, Denmark Hill, King's College Hospital, London, United Kingdom; Department of Epileptology (Krankenhaus Mara) (C.G.B., T.C.), Medical School, Campus Bielefeld-Bethel, Bielefeld University; Department of Neuropathology (R.C.); Epilepsy Center (H.M.H.), University Hospital Erlangen, Germany; Department of Neurology (P.M., A.K.), Motol Epilepsy Center, Second Medical Faculty, Charles University, Motol University Hospital, Prague, Czech Republic; Center for Pediatric Neurology, Neurorehabilitation, and Epileptology (T.P., M.K.), Schoen-Clinic, Vogtareuth, Germany; Research Institute "Rehabilitation, Transition, Palliation" (M.K.), PMU Salzburg, Austria; Department of Neurology I (T.J.V.O.), Neuromed Campus, Kepler Universitätsklinikum; Faculty of Medicine (T.J.V.O., M.A.), Johannes Kepler University; Department of Neurosurgery (M.A.), Neuromed Campus, Kepler Universitätsklinikum, Linz, Austria; Pediatric Neurosurgery Department (M.C.), Foundation Rothschild Hospital, Paris, France; Epilepsy Center (S.N., E.K.), Department of Neurology, Ludwig-Maximilians University, Munich, Germany; Epilepsy Centre (A.S.-B.); Department of Neurosurgery (C.F.S.), University Hospital, Freiburg, Germany; Department of Neurology (C.O.), Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Turkey; Swiss Epilepsy Center and Department of Neurology (K.K.), University Hospital, Zurich, Switzerland; Neuroscience Department (Renzo Guerrini, C.B.), Pathology Unit (A.M.B.), and Neurosurgery Department (F.G.), Meyer Children's Hospital IRCCS, Florence, Italy; University of Florence (Renzo Guerrini, C.B., F.G.), Florence, Italy; Epilepsy Center Frankfurt Rhine-Main (F.R.), Department of Neurology, and LOEWE Center for Personalized Translational Epilepsy Research (CePTER), Goethe University Frankfurt, Frankfurt am Main; Department of Neurology (F.R., K.M.), Epilepsy Center Hessen, Philipps University, Marburg, Germany; Epilepsy Unit (Rita Garbelli, F.D.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy; Department of Pediatric Neurology (P.K., B.S.), Motol Epilepsy Center, Second Medical Faculty, Charles University, Motol University Hospital, Prague, Czech Republic; Department of Pediatric Clinical Epileptology (A.A.A., J.T.), Sleep Disorders and Functional Neurology University Hospitals of Lyon (HCL), Lyon, France; Paediatric Epilepsy Unit (A.A.A., V.S.A.-A., J.R.), Child Neurology Department and Neurosurgery Department, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Neurology (W.V.P.); Department of Neurosurgery (T.T.), University Hospital Leuven, Belgium; Laboratory of Neuropathology (J.P., I.M.L.D.A.), Department of Neurosciences and Mental Health, Department of Neurology, Hospital de Santa Maria (CHULN)Lisbon, Portugal; Clinical and Experimental Neurology (N.S., L.D.P.), Bambino Gesu' Children's Hospital, IRCCS, Rome, Italy; Center for Rare and Complex Epilepsies (M.F., T.S.), Department of Pediatrics and Adolescent Medicine; Department of Neurosurgery (K.R.), Medical University of Vienna, Austria; Epilepsy Program (R.T.D., A.G.-N.), Hospital Ruber Internacional, Madrid, Spain; Laboratory for Neuropathology (Savo Raicevic), Department of Pathology; Department for Epilepsy (A.J.R.), Clinic of Neurology, Clinical Center of Serbia, Belgrade; Medical Faculty (A.J.R.), University of Belgrade, Serbia; Department of Neurosurgery (O.S.), Academic Center for Epileptology; Department of Pathology (J.B.), Maastricht University Medical Center, The Netherlands; and University Hospital Erlangen (Ingmar Blumcke), Neuropathology, Erlangen, Germany
-
Aronica, Eleonora
Autor Aronica, Eleonora ORCID From the Department of Child Neurology (M.W.S, I.V.d.W., F.E.J, K.P.B.), Member of EpiCARE ERN, University Medical Center Utrecht, Utrecht; Department of (Neuro)Pathology (E.A.), Amsterdam Neuroscience, Amsterdam UMC, University of Amsterdam; Stichting Epilepsie Instellingen Nederland (SEIN) (E.A.), Heemstede, The Netherlands; Department of Epileptology (C.H., A.R., R.S.); Department of Neurosurgery (A.G.), University of Bonn Medical Center, Germany; Department of Neurosurgery (A.G.), Epilepsy Center Hessen, Philipps University, Marburgy; Department of Neuropathology (A.J.B.), University of Bonn Medical Center, Germany; Department of Functional Neurology and Epileptology (Sylvain Rheims, H.C.), Hospices Civils de Lyon and University of Lyon; Lyon's Neurosciences Research Center (INSERM U1028 / CNRS UMR5292) (Sylvain Rheims, Catenoix Hélène), France; UCL Queen Square Institute of Neurology, Department of Clinical and Experimental Epilepsy and National Hospital for Neurology and Neurosurgery (J.S.D., J.D.T.); Developmental Biology and Cancer Programme (T.S.J.), UCL Great Ormond Street Institute of Child Health and the Department of Histopathology, Great Ormond Street Hospital for Children, London; UCL- NIHR BRC Great Ormond Street Institute of Child Health (J.H.C.), Great Ormond Street Hospital for Children, Lingfield, United Kingdom; Kuopio Epilepsy Center (R.K., T.R.), Kuopio University Hospital and University of Eastern Finland; Department of Pathology (R.K., T.R.), Kuopio University Hospital and University of Eastern Finland, Member of EpiCARE ERN, Kuopio, Finland; Hospital Sainte-Anne (F.C., B.C.D.), GHU-Paris, France; IRCCS NEUROMED (G.D.G., V.E.), Pozzilli (IS), Italy; Department of Neurosurgery (V.E.), Sapienza University of Rome, Italy; Department of Clinical Neuropathology (Istvan Bodi, M.H.), King's College Hospital NHS Foundation Trust, Academic Neuroscience Center, Denmark Hill, King's College Hospital, London, United Kingdom; Department of Epileptology (Krankenhaus Mara) (C.G.B., T.C.), Medical School, Campus Bielefeld-Bethel, Bielefeld University; Department of Neuropathology (R.C.); Epilepsy Center (H.M.H.), University Hospital Erlangen, Germany; Department of Neurology (P.M., A.K.), Motol Epilepsy Center, Second Medical Faculty, Charles University, Motol University Hospital, Prague, Czech Republic; Center for Pediatric Neurology, Neurorehabilitation, and Epileptology (T.P., M.K.), Schoen-Clinic, Vogtareuth, Germany; Research Institute "Rehabilitation, Transition, Palliation" (M.K.), PMU Salzburg, Austria; Department of Neurology I (T.J.V.O.), Neuromed Campus, Kepler Universitätsklinikum; Faculty of Medicine (T.J.V.O., M.A.), Johannes Kepler University; Department of Neurosurgery (M.A.), Neuromed Campus, Kepler Universitätsklinikum, Linz, Austria; Pediatric Neurosurgery Department (M.C.), Foundation Rothschild Hospital, Paris, France; Epilepsy Center (S.N., E.K.), Department of Neurology, Ludwig-Maximilians University, Munich, Germany; Epilepsy Centre (A.S.-B.); Department of Neurosurgery (C.F.S.), University Hospital, Freiburg, Germany; Department of Neurology (C.O.), Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Turkey; Swiss Epilepsy Center and Department of Neurology (K.K.), University Hospital, Zurich, Switzerland; Neuroscience Department (Renzo Guerrini, C.B.), Pathology Unit (A.M.B.), and Neurosurgery Department (F.G.), Meyer Children's Hospital IRCCS, Florence, Italy; University of Florence (Renzo Guerrini, C.B., F.G.), Florence, Italy; Epilepsy Center Frankfurt Rhine-Main (F.R.), Department of Neurology, and LOEWE Center for Personalized Translational Epilepsy Research (CePTER), Goethe University Frankfurt, Frankfurt am Main; Department of Neurology (F.R., K.M.), Epilepsy Center Hessen, Philipps University, Marburg, Germany; Epilepsy Unit (Rita Garbelli, F.D.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy; Department of Pediatric Neurology (P.K., B.S.), Motol Epilepsy Center, Second Medical Faculty, Charles University, Motol University Hospital, Prague, Czech Republic; Department of Pediatric Clinical Epileptology (A.A.A., J.T.), Sleep Disorders and Functional Neurology University Hospitals of Lyon (HCL), Lyon, France; Paediatric Epilepsy Unit (A.A.A., V.S.A.-A., J.R.), Child Neurology Department and Neurosurgery Department, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Neurology (W.V.P.); Department of Neurosurgery (T.T.), University Hospital Leuven, Belgium; Laboratory of Neuropathology (J.P., I.M.L.D.A.), Department of Neurosciences and Mental Health, Department of Neurology, Hospital de Santa Maria (CHULN)Lisbon, Portugal; Clinical and Experimental Neurology (N.S., L.D.P.), Bambino Gesu' Children's Hospital, IRCCS, Rome, Italy; Center for Rare and Complex Epilepsies (M.F., T.S.), Department of Pediatrics and Adolescent Medicine; Department of Neurosurgery (K.R.), Medical University of Vienna, Austria; Epilepsy Program (R.T.D., A.G.-N.), Hospital Ruber Internacional, Madrid, Spain; Laboratory for Neuropathology (Savo Raicevic), Department of Pathology; Department for Epilepsy (A.J.R.), Clinic of Neurology, Clinical Center of Serbia, Belgrade; Medical Faculty (A.J.R.), University of Belgrade, Serbia; Department of Neurosurgery (O.S.), Academic Center for Epileptology; Department of Pathology (J.B.), Maastricht University Medical Center, The Netherlands; and University Hospital Erlangen (Ingmar Blumcke), Neuropathology, Erlangen, Germany
-
Helmstaedter, Christoph
Autor Helmstaedter, Christoph ORCID From the Department of Child Neurology (M.W.S, I.V.d.W., F.E.J, K.P.B.), Member of EpiCARE ERN, University Medical Center Utrecht, Utrecht; Department of (Neuro)Pathology (E.A.), Amsterdam Neuroscience, Amsterdam UMC, University of Amsterdam; Stichting Epilepsie Instellingen Nederland (SEIN) (E.A.), Heemstede, The Netherlands; Department of Epileptology (C.H., A.R., R.S.); Department of Neurosurgery (A.G.), University of Bonn Medical Center, Germany; Department of Neurosurgery (A.G.), Epilepsy Center Hessen, Philipps University, Marburgy; Department of Neuropathology (A.J.B.), University of Bonn Medical Center, Germany; Department of Functional Neurology and Epileptology (Sylvain Rheims, H.C.), Hospices Civils de Lyon and University of Lyon; Lyon's Neurosciences Research Center (INSERM U1028 / CNRS UMR5292) (Sylvain Rheims, Catenoix Hélène), France; UCL Queen Square Institute of Neurology, Department of Clinical and Experimental Epilepsy and National Hospital for Neurology and Neurosurgery (J.S.D., J.D.T.); Developmental Biology and Cancer Programme (T.S.J.), UCL Great Ormond Street Institute of Child Health and the Department of Histopathology, Great Ormond Street Hospital for Children, London; UCL- NIHR BRC Great Ormond Street Institute of Child Health (J.H.C.), Great Ormond Street Hospital for Children, Lingfield, United Kingdom; Kuopio Epilepsy Center (R.K., T.R.), Kuopio University Hospital and University of Eastern Finland; Department of Pathology (R.K., T.R.), Kuopio University Hospital and University of Eastern Finland, Member of EpiCARE ERN, Kuopio, Finland; Hospital Sainte-Anne (F.C., B.C.D.), GHU-Paris, France; IRCCS NEUROMED (G.D.G., V.E.), Pozzilli (IS), Italy; Department of Neurosurgery (V.E.), Sapienza University of Rome, Italy; Department of Clinical Neuropathology (Istvan Bodi, M.H.), King's College Hospital NHS Foundation Trust, Academic Neuroscience Center, Denmark Hill, King's College Hospital, London, United Kingdom; Department of Epileptology (Krankenhaus Mara) (C.G.B., T.C.), Medical School, Campus Bielefeld-Bethel, Bielefeld University; Department of Neuropathology (R.C.); Epilepsy Center (H.M.H.), University Hospital Erlangen, Germany; Department of Neurology (P.M., A.K.), Motol Epilepsy Center, Second Medical Faculty, Charles University, Motol University Hospital, Prague, Czech Republic; Center for Pediatric Neurology, Neurorehabilitation, and Epileptology (T.P., M.K.), Schoen-Clinic, Vogtareuth, Germany; Research Institute "Rehabilitation, Transition, Palliation" (M.K.), PMU Salzburg, Austria; Department of Neurology I (T.J.V.O.), Neuromed Campus, Kepler Universitätsklinikum; Faculty of Medicine (T.J.V.O., M.A.), Johannes Kepler University; Department of Neurosurgery (M.A.), Neuromed Campus, Kepler Universitätsklinikum, Linz, Austria; Pediatric Neurosurgery Department (M.C.), Foundation Rothschild Hospital, Paris, France; Epilepsy Center (S.N., E.K.), Department of Neurology, Ludwig-Maximilians University, Munich, Germany; Epilepsy Centre (A.S.-B.); Department of Neurosurgery (C.F.S.), University Hospital, Freiburg, Germany; Department of Neurology (C.O.), Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Turkey; Swiss Epilepsy Center and Department of Neurology (K.K.), University Hospital, Zurich, Switzerland; Neuroscience Department (Renzo Guerrini, C.B.), Pathology Unit (A.M.B.), and Neurosurgery Department (F.G.), Meyer Children's Hospital IRCCS, Florence, Italy; University of Florence (Renzo Guerrini, C.B., F.G.), Florence, Italy; Epilepsy Center Frankfurt Rhine-Main (F.R.), Department of Neurology, and LOEWE Center for Personalized Translational Epilepsy Research (CePTER), Goethe University Frankfurt, Frankfurt am Main; Department of Neurology (F.R., K.M.), Epilepsy Center Hessen, Philipps University, Marburg, Germany; Epilepsy Unit (Rita Garbelli, F.D.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy; Department of Pediatric Neurology (P.K., B.S.), Motol Epilepsy Center, Second Medical Faculty, Charles University, Motol University Hospital, Prague, Czech Republic; Department of Pediatric Clinical Epileptology (A.A.A., J.T.), Sleep Disorders and Functional Neurology University Hospitals of Lyon (HCL), Lyon, France; Paediatric Epilepsy Unit (A.A.A., V.S.A.-A., J.R.), Child Neurology Department and Neurosurgery Department, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Neurology (W.V.P.); Department of Neurosurgery (T.T.), University Hospital Leuven, Belgium; Laboratory of Neuropathology (J.P., I.M.L.D.A.), Department of Neurosciences and Mental Health, Department of Neurology, Hospital de Santa Maria (CHULN)Lisbon, Portugal; Clinical and Experimental Neurology (N.S., L.D.P.), Bambino Gesu' Children's Hospital, IRCCS, Rome, Italy; Center for Rare and Complex Epilepsies (M.F., T.S.), Department of Pediatrics and Adolescent Medicine; Department of Neurosurgery (K.R.), Medical University of Vienna, Austria; Epilepsy Program (R.T.D., A.G.-N.), Hospital Ruber Internacional, Madrid, Spain; Laboratory for Neuropathology (Savo Raicevic), Department of Pathology; Department for Epilepsy (A.J.R.), Clinic of Neurology, Clinical Center of Serbia, Belgrade; Medical Faculty (A.J.R.), University of Belgrade, Serbia; Department of Neurosurgery (O.S.), Academic Center for Epileptology; Department of Pathology (J.B.), Maastricht University Medical Center, The Netherlands; and University Hospital Erlangen (Ingmar Blumcke), Neuropathology, Erlangen, Germany
-
Racz, Attila
Autor Racz, Attila ORCID From the Department of Child Neurology (M.W.S, I.V.d.W., F.E.J, K.P.B.), Member of EpiCARE ERN, University Medical Center Utrecht, Utrecht; Department of (Neuro)Pathology (E.A.), Amsterdam Neuroscience, Amsterdam UMC, University of Amsterdam; Stichting Epilepsie Instellingen Nederland (SEIN) (E.A.), Heemstede, The Netherlands; Department of Epileptology (C.H., A.R., R.S.); Department of Neurosurgery (A.G.), University of Bonn Medical Center, Germany; Department of Neurosurgery (A.G.), Epilepsy Center Hessen, Philipps University, Marburgy; Department of Neuropathology (A.J.B.), University of Bonn Medical Center, Germany; Department of Functional Neurology and Epileptology (Sylvain Rheims, H.C.), Hospices Civils de Lyon and University of Lyon; Lyon's Neurosciences Research Center (INSERM U1028 / CNRS UMR5292) (Sylvain Rheims, Catenoix Hélène), France; UCL Queen Square Institute of Neurology, Department of Clinical and Experimental Epilepsy and National Hospital for Neurology and Neurosurgery (J.S.D., J.D.T.); Developmental Biology and Cancer Programme (T.S.J.), UCL Great Ormond Street Institute of Child Health and the Department of Histopathology, Great Ormond Street Hospital for Children, London; UCL- NIHR BRC Great Ormond Street Institute of Child Health (J.H.C.), Great Ormond Street Hospital for Children, Lingfield, United Kingdom; Kuopio Epilepsy Center (R.K., T.R.), Kuopio University Hospital and University of Eastern Finland; Department of Pathology (R.K., T.R.), Kuopio University Hospital and University of Eastern Finland, Member of EpiCARE ERN, Kuopio, Finland; Hospital Sainte-Anne (F.C., B.C.D.), GHU-Paris, France; IRCCS NEUROMED (G.D.G., V.E.), Pozzilli (IS), Italy; Department of Neurosurgery (V.E.), Sapienza University of Rome, Italy; Department of Clinical Neuropathology (Istvan Bodi, M.H.), King's College Hospital NHS Foundation Trust, Academic Neuroscience Center, Denmark Hill, King's College Hospital, London, United Kingdom; Department of Epileptology (Krankenhaus Mara) (C.G.B., T.C.), Medical School, Campus Bielefeld-Bethel, Bielefeld University; Department of Neuropathology (R.C.); Epilepsy Center (H.M.H.), University Hospital Erlangen, Germany; Department of Neurology (P.M., A.K.), Motol Epilepsy Center, Second Medical Faculty, Charles University, Motol University Hospital, Prague, Czech Republic; Center for Pediatric Neurology, Neurorehabilitation, and Epileptology (T.P., M.K.), Schoen-Clinic, Vogtareuth, Germany; Research Institute "Rehabilitation, Transition, Palliation" (M.K.), PMU Salzburg, Austria; Department of Neurology I (T.J.V.O.), Neuromed Campus, Kepler Universitätsklinikum; Faculty of Medicine (T.J.V.O., M.A.), Johannes Kepler University; Department of Neurosurgery (M.A.), Neuromed Campus, Kepler Universitätsklinikum, Linz, Austria; Pediatric Neurosurgery Department (M.C.), Foundation Rothschild Hospital, Paris, France; Epilepsy Center (S.N., E.K.), Department of Neurology, Ludwig-Maximilians University, Munich, Germany; Epilepsy Centre (A.S.-B.); Department of Neurosurgery (C.F.S.), University Hospital, Freiburg, Germany; Department of Neurology (C.O.), Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Turkey; Swiss Epilepsy Center and Department of Neurology (K.K.), University Hospital, Zurich, Switzerland; Neuroscience Department (Renzo Guerrini, C.B.), Pathology Unit (A.M.B.), and Neurosurgery Department (F.G.), Meyer Children's Hospital IRCCS, Florence, Italy; University of Florence (Renzo Guerrini, C.B., F.G.), Florence, Italy; Epilepsy Center Frankfurt Rhine-Main (F.R.), Department of Neurology, and LOEWE Center for Personalized Translational Epilepsy Research (CePTER), Goethe University Frankfurt, Frankfurt am Main; Department of Neurology (F.R., K.M.), Epilepsy Center Hessen, Philipps University, Marburg, Germany; Epilepsy Unit (Rita Garbelli, F.D.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy; Department of Pediatric Neurology (P.K., B.S.), Motol Epilepsy Center, Second Medical Faculty, Charles University, Motol University Hospital, Prague, Czech Republic; Department of Pediatric Clinical Epileptology (A.A.A., J.T.), Sleep Disorders and Functional Neurology University Hospitals of Lyon (HCL), Lyon, France; Paediatric Epilepsy Unit (A.A.A., V.S.A.-A., J.R.), Child Neurology Department and Neurosurgery Department, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Neurology (W.V.P.); Department of Neurosurgery (T.T.), University Hospital Leuven, Belgium; Laboratory of Neuropathology (J.P., I.M.L.D.A.), Department of Neurosciences and Mental Health, Department of Neurology, Hospital de Santa Maria (CHULN)Lisbon, Portugal; Clinical and Experimental Neurology (N.S., L.D.P.), Bambino Gesu' Children's Hospital, IRCCS, Rome, Italy; Center for Rare and Complex Epilepsies (M.F., T.S.), Department of Pediatrics and Adolescent Medicine; Department of Neurosurgery (K.R.), Medical University of Vienna, Austria; Epilepsy Program (R.T.D., A.G.-N.), Hospital Ruber Internacional, Madrid, Spain; Laboratory for Neuropathology (Savo Raicevic), Department of Pathology; Department for Epilepsy (A.J.R.), Clinic of Neurology, Clinical Center of Serbia, Belgrade; Medical Faculty (A.J.R.), University of Belgrade, Serbia; Department of Neurosurgery (O.S.), Academic Center for Epileptology; Department of Pathology (J.B.), Maastricht University Medical Center, The Netherlands; and University Hospital Erlangen (Ingmar Blumcke), Neuropathology, Erlangen, Germany
-
Surges, Rainer
Autor Surges, Rainer ORCID From the Department of Child Neurology (M.W.S, I.V.d.W., F.E.J, K.P.B.), Member of EpiCARE ERN, University Medical Center Utrecht, Utrecht; Department of (Neuro)Pathology (E.A.), Amsterdam Neuroscience, Amsterdam UMC, University of Amsterdam; Stichting Epilepsie Instellingen Nederland (SEIN) (E.A.), Heemstede, The Netherlands; Department of Epileptology (C.H., A.R., R.S.); Department of Neurosurgery (A.G.), University of Bonn Medical Center, Germany; Department of Neurosurgery (A.G.), Epilepsy Center Hessen, Philipps University, Marburgy; Department of Neuropathology (A.J.B.), University of Bonn Medical Center, Germany; Department of Functional Neurology and Epileptology (Sylvain Rheims, H.C.), Hospices Civils de Lyon and University of Lyon; Lyon's Neurosciences Research Center (INSERM U1028 / CNRS UMR5292) (Sylvain Rheims, Catenoix Hélène), France; UCL Queen Square Institute of Neurology, Department of Clinical and Experimental Epilepsy and National Hospital for Neurology and Neurosurgery (J.S.D., J.D.T.); Developmental Biology and Cancer Programme (T.S.J.), UCL Great Ormond Street Institute of Child Health and the Department of Histopathology, Great Ormond Street Hospital for Children, London; UCL- NIHR BRC Great Ormond Street Institute of Child Health (J.H.C.), Great Ormond Street Hospital for Children, Lingfield, United Kingdom; Kuopio Epilepsy Center (R.K., T.R.), Kuopio University Hospital and University of Eastern Finland; Department of Pathology (R.K., T.R.), Kuopio University Hospital and University of Eastern Finland, Member of EpiCARE ERN, Kuopio, Finland; Hospital Sainte-Anne (F.C., B.C.D.), GHU-Paris, France; IRCCS NEUROMED (G.D.G., V.E.), Pozzilli (IS), Italy; Department of Neurosurgery (V.E.), Sapienza University of Rome, Italy; Department of Clinical Neuropathology (Istvan Bodi, M.H.), King's College Hospital NHS Foundation Trust, Academic Neuroscience Center, Denmark Hill, King's College Hospital, London, United Kingdom; Department of Epileptology (Krankenhaus Mara) (C.G.B., T.C.), Medical School, Campus Bielefeld-Bethel, Bielefeld University; Department of Neuropathology (R.C.); Epilepsy Center (H.M.H.), University Hospital Erlangen, Germany; Department of Neurology (P.M., A.K.), Motol Epilepsy Center, Second Medical Faculty, Charles University, Motol University Hospital, Prague, Czech Republic; Center for Pediatric Neurology, Neurorehabilitation, and Epileptology (T.P., M.K.), Schoen-Clinic, Vogtareuth, Germany; Research Institute "Rehabilitation, Transition, Palliation" (M.K.), PMU Salzburg, Austria; Department of Neurology I (T.J.V.O.), Neuromed Campus, Kepler Universitätsklinikum; Faculty of Medicine (T.J.V.O., M.A.), Johannes Kepler University; Department of Neurosurgery (M.A.), Neuromed Campus, Kepler Universitätsklinikum, Linz, Austria; Pediatric Neurosurgery Department (M.C.), Foundation Rothschild Hospital, Paris, France; Epilepsy Center (S.N., E.K.), Department of Neurology, Ludwig-Maximilians University, Munich, Germany; Epilepsy Centre (A.S.-B.); Department of Neurosurgery (C.F.S.), University Hospital, Freiburg, Germany; Department of Neurology (C.O.), Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Turkey; Swiss Epilepsy Center and Department of Neurology (K.K.), University Hospital, Zurich, Switzerland; Neuroscience Department (Renzo Guerrini, C.B.), Pathology Unit (A.M.B.), and Neurosurgery Department (F.G.), Meyer Children's Hospital IRCCS, Florence, Italy; University of Florence (Renzo Guerrini, C.B., F.G.), Florence, Italy; Epilepsy Center Frankfurt Rhine-Main (F.R.), Department of Neurology, and LOEWE Center for Personalized Translational Epilepsy Research (CePTER), Goethe University Frankfurt, Frankfurt am Main; Department of Neurology (F.R., K.M.), Epilepsy Center Hessen, Philipps University, Marburg, Germany; Epilepsy Unit (Rita Garbelli, F.D.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy; Department of Pediatric Neurology (P.K., B.S.), Motol Epilepsy Center, Second Medical Faculty, Charles University, Motol University Hospital, Prague, Czech Republic; Department of Pediatric Clinical Epileptology (A.A.A., J.T.), Sleep Disorders and Functional Neurology University Hospitals of Lyon (HCL), Lyon, France; Paediatric Epilepsy Unit (A.A.A., V.S.A.-A., J.R.), Child Neurology Department and Neurosurgery Department, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Neurology (W.V.P.); Department of Neurosurgery (T.T.), University Hospital Leuven, Belgium; Laboratory of Neuropathology (J.P., I.M.L.D.A.), Department of Neurosciences and Mental Health, Department of Neurology, Hospital de Santa Maria (CHULN)Lisbon, Portugal; Clinical and Experimental Neurology (N.S., L.D.P.), Bambino Gesu' Children's Hospital, IRCCS, Rome, Italy; Center for Rare and Complex Epilepsies (M.F., T.S.), Department of Pediatrics and Adolescent Medicine; Department of Neurosurgery (K.R.), Medical University of Vienna, Austria; Epilepsy Program (R.T.D., A.G.-N.), Hospital Ruber Internacional, Madrid, Spain; Laboratory for Neuropathology (Savo Raicevic), Department of Pathology; Department for Epilepsy (A.J.R.), Clinic of Neurology, Clinical Center of Serbia, Belgrade; Medical Faculty (A.J.R.), University of Belgrade, Serbia; Department of Neurosurgery (O.S.), Academic Center for Epileptology; Department of Pathology (J.B.), Maastricht University Medical Center, The Netherlands; and University Hospital Erlangen (Ingmar Blumcke), Neuropathology, Erlangen, Germany
-
Grote, Alexander
Autor Grote, Alexander ORCID From the Department of Child Neurology (M.W.S, I.V.d.W., F.E.J, K.P.B.), Member of EpiCARE ERN, University Medical Center Utrecht, Utrecht; Department of (Neuro)Pathology (E.A.), Amsterdam Neuroscience, Amsterdam UMC, University of Amsterdam; Stichting Epilepsie Instellingen Nederland (SEIN) (E.A.), Heemstede, The Netherlands; Department of Epileptology (C.H., A.R., R.S.); Department of Neurosurgery (A.G.), University of Bonn Medical Center, Germany; Department of Neurosurgery (A.G.), Epilepsy Center Hessen, Philipps University, Marburgy; Department of Neuropathology (A.J.B.), University of Bonn Medical Center, Germany; Department of Functional Neurology and Epileptology (Sylvain Rheims, H.C.), Hospices Civils de Lyon and University of Lyon; Lyon's Neurosciences Research Center (INSERM U1028 / CNRS UMR5292) (Sylvain Rheims, Catenoix Hélène), France; UCL Queen Square Institute of Neurology, Department of Clinical and Experimental Epilepsy and National Hospital for Neurology and Neurosurgery (J.S.D., J.D.T.); Developmental Biology and Cancer Programme (T.S.J.), UCL Great Ormond Street Institute of Child Health and the Department of Histopathology, Great Ormond Street Hospital for Children, London; UCL- NIHR BRC Great Ormond Street Institute of Child Health (J.H.C.), Great Ormond Street Hospital for Children, Lingfield, United Kingdom; Kuopio Epilepsy Center (R.K., T.R.), Kuopio University Hospital and University of Eastern Finland; Department of Pathology (R.K., T.R.), Kuopio University Hospital and University of Eastern Finland, Member of EpiCARE ERN, Kuopio, Finland; Hospital Sainte-Anne (F.C., B.C.D.), GHU-Paris, France; IRCCS NEUROMED (G.D.G., V.E.), Pozzilli (IS), Italy; Department of Neurosurgery (V.E.), Sapienza University of Rome, Italy; Department of Clinical Neuropathology (Istvan Bodi, M.H.), King's College Hospital NHS Foundation Trust, Academic Neuroscience Center, Denmark Hill, King's College Hospital, London, United Kingdom; Department of Epileptology (Krankenhaus Mara) (C.G.B., T.C.), Medical School, Campus Bielefeld-Bethel, Bielefeld University; Department of Neuropathology (R.C.); Epilepsy Center (H.M.H.), University Hospital Erlangen, Germany; Department of Neurology (P.M., A.K.), Motol Epilepsy Center, Second Medical Faculty, Charles University, Motol University Hospital, Prague, Czech Republic; Center for Pediatric Neurology, Neurorehabilitation, and Epileptology (T.P., M.K.), Schoen-Clinic, Vogtareuth, Germany; Research Institute "Rehabilitation, Transition, Palliation" (M.K.), PMU Salzburg, Austria; Department of Neurology I (T.J.V.O.), Neuromed Campus, Kepler Universitätsklinikum; Faculty of Medicine (T.J.V.O., M.A.), Johannes Kepler University; Department of Neurosurgery (M.A.), Neuromed Campus, Kepler Universitätsklinikum, Linz, Austria; Pediatric Neurosurgery Department (M.C.), Foundation Rothschild Hospital, Paris, France; Epilepsy Center (S.N., E.K.), Department of Neurology, Ludwig-Maximilians University, Munich, Germany; Epilepsy Centre (A.S.-B.); Department of Neurosurgery (C.F.S.), University Hospital, Freiburg, Germany; Department of Neurology (C.O.), Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Turkey; Swiss Epilepsy Center and Department of Neurology (K.K.), University Hospital, Zurich, Switzerland; Neuroscience Department (Renzo Guerrini, C.B.), Pathology Unit (A.M.B.), and Neurosurgery Department (F.G.), Meyer Children's Hospital IRCCS, Florence, Italy; University of Florence (Renzo Guerrini, C.B., F.G.), Florence, Italy; Epilepsy Center Frankfurt Rhine-Main (F.R.), Department of Neurology, and LOEWE Center for Personalized Translational Epilepsy Research (CePTER), Goethe University Frankfurt, Frankfurt am Main; Department of Neurology (F.R., K.M.), Epilepsy Center Hessen, Philipps University, Marburg, Germany; Epilepsy Unit (Rita Garbelli, F.D.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy; Department of Pediatric Neurology (P.K., B.S.), Motol Epilepsy Center, Second Medical Faculty, Charles University, Motol University Hospital, Prague, Czech Republic; Department of Pediatric Clinical Epileptology (A.A.A., J.T.), Sleep Disorders and Functional Neurology University Hospitals of Lyon (HCL), Lyon, France; Paediatric Epilepsy Unit (A.A.A., V.S.A.-A., J.R.), Child Neurology Department and Neurosurgery Department, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Neurology (W.V.P.); Department of Neurosurgery (T.T.), University Hospital Leuven, Belgium; Laboratory of Neuropathology (J.P., I.M.L.D.A.), Department of Neurosciences and Mental Health, Department of Neurology, Hospital de Santa Maria (CHULN)Lisbon, Portugal; Clinical and Experimental Neurology (N.S., L.D.P.), Bambino Gesu' Children's Hospital, IRCCS, Rome, Italy; Center for Rare and Complex Epilepsies (M.F., T.S.), Department of Pediatrics and Adolescent Medicine; Department of Neurosurgery (K.R.), Medical University of Vienna, Austria; Epilepsy Program (R.T.D., A.G.-N.), Hospital Ruber Internacional, Madrid, Spain; Laboratory for Neuropathology (Savo Raicevic), Department of Pathology; Department for Epilepsy (A.J.R.), Clinic of Neurology, Clinical Center of Serbia, Belgrade; Medical Faculty (A.J.R.), University of Belgrade, Serbia; Department of Neurosurgery (O.S.), Academic Center for Epileptology; Department of Pathology (J.B.), Maastricht University Medical Center, The Netherlands; and University Hospital Erlangen (Ingmar Blumcke), Neuropathology, Erlangen, Germany
-
Becker, Albert J
Autor Becker, Albert J ORCID From the Department of Child Neurology (M.W.S, I.V.d.W., F.E.J, K.P.B.), Member of EpiCARE ERN, University Medical Center Utrecht, Utrecht; Department of (Neuro)Pathology (E.A.), Amsterdam Neuroscience, Amsterdam UMC, University of Amsterdam; Stichting Epilepsie Instellingen Nederland (SEIN) (E.A.), Heemstede, The Netherlands; Department of Epileptology (C.H., A.R., R.S.); Department of Neurosurgery (A.G.), University of Bonn Medical Center, Germany; Department of Neurosurgery (A.G.), Epilepsy Center Hessen, Philipps University, Marburgy; Department of Neuropathology (A.J.B.), University of Bonn Medical Center, Germany; Department of Functional Neurology and Epileptology (Sylvain Rheims, H.C.), Hospices Civils de Lyon and University of Lyon; Lyon's Neurosciences Research Center (INSERM U1028 / CNRS UMR5292) (Sylvain Rheims, Catenoix Hélène), France; UCL Queen Square Institute of Neurology, Department of Clinical and Experimental Epilepsy and National Hospital for Neurology and Neurosurgery (J.S.D., J.D.T.); Developmental Biology and Cancer Programme (T.S.J.), UCL Great Ormond Street Institute of Child Health and the Department of Histopathology, Great Ormond Street Hospital for Children, London; UCL- NIHR BRC Great Ormond Street Institute of Child Health (J.H.C.), Great Ormond Street Hospital for Children, Lingfield, United Kingdom; Kuopio Epilepsy Center (R.K., T.R.), Kuopio University Hospital and University of Eastern Finland; Department of Pathology (R.K., T.R.), Kuopio University Hospital and University of Eastern Finland, Member of EpiCARE ERN, Kuopio, Finland; Hospital Sainte-Anne (F.C., B.C.D.), GHU-Paris, France; IRCCS NEUROMED (G.D.G., V.E.), Pozzilli (IS), Italy; Department of Neurosurgery (V.E.), Sapienza University of Rome, Italy; Department of Clinical Neuropathology (Istvan Bodi, M.H.), King's College Hospital NHS Foundation Trust, Academic Neuroscience Center, Denmark Hill, King's College Hospital, London, United Kingdom; Department of Epileptology (Krankenhaus Mara) (C.G.B., T.C.), Medical School, Campus Bielefeld-Bethel, Bielefeld University; Department of Neuropathology (R.C.); Epilepsy Center (H.M.H.), University Hospital Erlangen, Germany; Department of Neurology (P.M., A.K.), Motol Epilepsy Center, Second Medical Faculty, Charles University, Motol University Hospital, Prague, Czech Republic; Center for Pediatric Neurology, Neurorehabilitation, and Epileptology (T.P., M.K.), Schoen-Clinic, Vogtareuth, Germany; Research Institute "Rehabilitation, Transition, Palliation" (M.K.), PMU Salzburg, Austria; Department of Neurology I (T.J.V.O.), Neuromed Campus, Kepler Universitätsklinikum; Faculty of Medicine (T.J.V.O., M.A.), Johannes Kepler University; Department of Neurosurgery (M.A.), Neuromed Campus, Kepler Universitätsklinikum, Linz, Austria; Pediatric Neurosurgery Department (M.C.), Foundation Rothschild Hospital, Paris, France; Epilepsy Center (S.N., E.K.), Department of Neurology, Ludwig-Maximilians University, Munich, Germany; Epilepsy Centre (A.S.-B.); Department of Neurosurgery (C.F.S.), University Hospital, Freiburg, Germany; Department of Neurology (C.O.), Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Turkey; Swiss Epilepsy Center and Department of Neurology (K.K.), University Hospital, Zurich, Switzerland; Neuroscience Department (Renzo Guerrini, C.B.), Pathology Unit (A.M.B.), and Neurosurgery Department (F.G.), Meyer Children's Hospital IRCCS, Florence, Italy; University of Florence (Renzo Guerrini, C.B., F.G.), Florence, Italy; Epilepsy Center Frankfurt Rhine-Main (F.R.), Department of Neurology, and LOEWE Center for Personalized Translational Epilepsy Research (CePTER), Goethe University Frankfurt, Frankfurt am Main; Department of Neurology (F.R., K.M.), Epilepsy Center Hessen, Philipps University, Marburg, Germany; Epilepsy Unit (Rita Garbelli, F.D.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy; Department of Pediatric Neurology (P.K., B.S.), Motol Epilepsy Center, Second Medical Faculty, Charles University, Motol University Hospital, Prague, Czech Republic; Department of Pediatric Clinical Epileptology (A.A.A., J.T.), Sleep Disorders and Functional Neurology University Hospitals of Lyon (HCL), Lyon, France; Paediatric Epilepsy Unit (A.A.A., V.S.A.-A., J.R.), Child Neurology Department and Neurosurgery Department, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Neurology (W.V.P.); Department of Neurosurgery (T.T.), University Hospital Leuven, Belgium; Laboratory of Neuropathology (J.P., I.M.L.D.A.), Department of Neurosciences and Mental Health, Department of Neurology, Hospital de Santa Maria (CHULN)Lisbon, Portugal; Clinical and Experimental Neurology (N.S., L.D.P.), Bambino Gesu' Children's Hospital, IRCCS, Rome, Italy; Center for Rare and Complex Epilepsies (M.F., T.S.), Department of Pediatrics and Adolescent Medicine; Department of Neurosurgery (K.R.), Medical University of Vienna, Austria; Epilepsy Program (R.T.D., A.G.-N.), Hospital Ruber Internacional, Madrid, Spain; Laboratory for Neuropathology (Savo Raicevic), Department of Pathology; Department for Epilepsy (A.J.R.), Clinic of Neurology, Clinical Center of Serbia, Belgrade; Medical Faculty (A.J.R.), University of Belgrade, Serbia; Department of Neurosurgery (O.S.), Academic Center for Epileptology; Department of Pathology (J.B.), Maastricht University Medical Center, The Netherlands; and University Hospital Erlangen (Ingmar Blumcke), Neuropathology, Erlangen, Germany
-
Rheims, Sylvain
Autor Rheims, Sylvain ORCID From the Department of Child Neurology (M.W.S, I.V.d.W., F.E.J, K.P.B.), Member of EpiCARE ERN, University Medical Center Utrecht, Utrecht; Department of (Neuro)Pathology (E.A.), Amsterdam Neuroscience, Amsterdam UMC, University of Amsterdam; Stichting Epilepsie Instellingen Nederland (SEIN) (E.A.), Heemstede, The Netherlands; Department of Epileptology (C.H., A.R., R.S.); Department of Neurosurgery (A.G.), University of Bonn Medical Center, Germany; Department of Neurosurgery (A.G.), Epilepsy Center Hessen, Philipps University, Marburgy; Department of Neuropathology (A.J.B.), University of Bonn Medical Center, Germany; Department of Functional Neurology and Epileptology (Sylvain Rheims, H.C.), Hospices Civils de Lyon and University of Lyon; Lyon's Neurosciences Research Center (INSERM U1028 / CNRS UMR5292) (Sylvain Rheims, Catenoix Hélène), France; UCL Queen Square Institute of Neurology, Department of Clinical and Experimental Epilepsy and National Hospital for Neurology and Neurosurgery (J.S.D., J.D.T.); Developmental Biology and Cancer Programme (T.S.J.), UCL Great Ormond Street Institute of Child Health and the Department of Histopathology, Great Ormond Street Hospital for Children, London; UCL- NIHR BRC Great Ormond Street Institute of Child Health (J.H.C.), Great Ormond Street Hospital for Children, Lingfield, United Kingdom; Kuopio Epilepsy Center (R.K., T.R.), Kuopio University Hospital and University of Eastern Finland; Department of Pathology (R.K., T.R.), Kuopio University Hospital and University of Eastern Finland, Member of EpiCARE ERN, Kuopio, Finland; Hospital Sainte-Anne (F.C., B.C.D.), GHU-Paris, France; IRCCS NEUROMED (G.D.G., V.E.), Pozzilli (IS), Italy; Department of Neurosurgery (V.E.), Sapienza University of Rome, Italy; Department of Clinical Neuropathology (Istvan Bodi, M.H.), King's College Hospital NHS Foundation Trust, Academic Neuroscience Center, Denmark Hill, King's College Hospital, London, United Kingdom; Department of Epileptology (Krankenhaus Mara) (C.G.B., T.C.), Medical School, Campus Bielefeld-Bethel, Bielefeld University; Department of Neuropathology (R.C.); Epilepsy Center (H.M.H.), University Hospital Erlangen, Germany; Department of Neurology (P.M., A.K.), Motol Epilepsy Center, Second Medical Faculty, Charles University, Motol University Hospital, Prague, Czech Republic; Center for Pediatric Neurology, Neurorehabilitation, and Epileptology (T.P., M.K.), Schoen-Clinic, Vogtareuth, Germany; Research Institute "Rehabilitation, Transition, Palliation" (M.K.), PMU Salzburg, Austria; Department of Neurology I (T.J.V.O.), Neuromed Campus, Kepler Universitätsklinikum; Faculty of Medicine (T.J.V.O., M.A.), Johannes Kepler University; Department of Neurosurgery (M.A.), Neuromed Campus, Kepler Universitätsklinikum, Linz, Austria; Pediatric Neurosurgery Department (M.C.), Foundation Rothschild Hospital, Paris, France; Epilepsy Center (S.N., E.K.), Department of Neurology, Ludwig-Maximilians University, Munich, Germany; Epilepsy Centre (A.S.-B.); Department of Neurosurgery (C.F.S.), University Hospital, Freiburg, Germany; Department of Neurology (C.O.), Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Turkey; Swiss Epilepsy Center and Department of Neurology (K.K.), University Hospital, Zurich, Switzerland; Neuroscience Department (Renzo Guerrini, C.B.), Pathology Unit (A.M.B.), and Neurosurgery Department (F.G.), Meyer Children's Hospital IRCCS, Florence, Italy; University of Florence (Renzo Guerrini, C.B., F.G.), Florence, Italy; Epilepsy Center Frankfurt Rhine-Main (F.R.), Department of Neurology, and LOEWE Center for Personalized Translational Epilepsy Research (CePTER), Goethe University Frankfurt, Frankfurt am Main; Department of Neurology (F.R., K.M.), Epilepsy Center Hessen, Philipps University, Marburg, Germany; Epilepsy Unit (Rita Garbelli, F.D.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy; Department of Pediatric Neurology (P.K., B.S.), Motol Epilepsy Center, Second Medical Faculty, Charles University, Motol University Hospital, Prague, Czech Republic; Department of Pediatric Clinical Epileptology (A.A.A., J.T.), Sleep Disorders and Functional Neurology University Hospitals of Lyon (HCL), Lyon, France; Paediatric Epilepsy Unit (A.A.A., V.S.A.-A., J.R.), Child Neurology Department and Neurosurgery Department, Hospital Sant Joan de Déu, Barcelona, Spain; Department of Neurology (W.V.P.); Department of Neurosurgery (T.T.), University Hospital Leuven, Belgium; Laboratory of Neuropathology (J.P., I.M.L.D.A.), Department of Neurosciences and Mental Health, Department of Neurology, Hospital de Santa Maria (CHULN)Lisbon, Portugal; Clinical and Experimental Neurology (N.S., L.D.P.), Bambino Gesu' Children's Hospital, IRCCS, Rome, Italy; Center for Rare and Complex Epilepsies (M.F., T.S.), Department of Pediatrics and Adolescent Medicine; Department of Neurosurgery (K.R.), Medical University of Vienna, Austria; Epilepsy Program (R.T.D., A.G.-N.), Hospital Ruber Internacional, Madrid, Spain; Laboratory for Neuropathology (Savo Raicevic), Department of Pathology; Department for Epilepsy (A.J.R.), Clinic of Neurology, Clinical Center of Serbia, Belgrade; Medical Faculty (A.J.R.), University of Belgrade, Serbia; Department of Neurosurgery (O.S.), Academic Center for Epileptology; Department of Pathology (J.B.), Maastricht University Medical Center, The Netherlands; and University Hospital Erlangen (Ingmar Blumcke), Neuropathology, Erlangen, Germany
PubMed
38290094
PubMed Central
PMC10962914
DOI
10.1212/wnl.0000000000208007
Knihovny.cz E-zdroje
BACKGROUND AND OBJECTIVE: Patients with presumed nonlesional focal epilepsy-based on either MRI or histopathologic findings-have a lower success rate of epilepsy surgery compared with lesional patients. In this study, we aimed to characterize a large group of patients with focal epilepsy who underwent epilepsy surgery despite a normal MRI and had no lesion on histopathology. Determinants of their postoperative seizure outcomes were further studied. METHODS: We designed an observational multicenter cohort study of MRI-negative and histopathology-negative patients who were derived from the European Epilepsy Brain Bank and underwent epilepsy surgery between 2000 and 2012 in 34 epilepsy surgery centers within Europe. We collected data on clinical characteristics, presurgical assessment, including genetic testing, surgery characteristics, postoperative outcome, and treatment regimen. RESULTS: Of the 217 included patients, 40% were seizure-free (Engel I) 2 years after surgery and one-third of patients remained seizure-free after 5 years. Temporal lobe surgery (adjusted odds ratio [AOR]: 2.62; 95% CI 1.19-5.76), shorter epilepsy duration (AOR for duration: 0.94; 95% CI 0.89-0.99), and completely normal histopathologic findings-versus nonspecific reactive gliosis-(AOR: 4.69; 95% CI 1.79-11.27) were significantly associated with favorable seizure outcome at 2 years after surgery. Of patients who underwent invasive monitoring, only 35% reached seizure freedom at 2 years. Patients with parietal lobe resections had lowest seizure freedom rates (12.5%). Among temporal lobe surgery patients, there was a trend toward favorable outcome if hippocampectomy was part of the resection strategy (OR: 2.94; 95% CI 0.98-8.80). Genetic testing was only sporadically performed. DISCUSSION: This study shows that seizure freedom can be reached in 40% of nonlesional patients with both normal MRI and histopathology findings. In particular, nonlesional temporal lobe epilepsy should be regarded as a relatively favorable group, with almost half of patients achieving seizure freedom at 2 years after surgery-even more if the hippocampus is resected-compared with only 1 in 5 nonlesional patients who underwent extratemporal surgery. Patients with an electroclinically identified focus, who are nonlesional, will be a promising group for advanced molecular-genetic analysis of brain tissue specimens to identify new brain somatic epilepsy genes or epilepsy-associated molecular pathways.
- MeSH
- elektroencefalografie MeSH
- epilepsie parciální * diagnostické zobrazování chirurgie MeSH
- epilepsie temporálního laloku * chirurgie MeSH
- epilepsie * diagnostické zobrazování chirurgie MeSH
- kohortové studie MeSH
- lidé MeSH
- magnetická rezonanční tomografie MeSH
- retrospektivní studie MeSH
- výsledek terapie MeSH
- záchvaty MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- multicentrická studie MeSH
- pozorovací studie MeSH
PubMed
37943122
PubMed Central
PMC10839359
DOI
10.1002/epi4.12863
Knihovny.cz E-zdroje
Focal cortical dysplasia (FCD) represents the most common cause of drug-resistant epilepsy in adult and pediatric surgical series. However, genetic factors contributing to severe phenotypes of FCD remain unknown. We present a patient with an exceptionally rapid development of drug-resistant epilepsy evolving in super-refractory status epilepticus. We performed multiple clinical (serial EEG, MRI), biochemical (metabolic and immunological screening), genetic (WES from blood- and brain-derived DNA), and histopathological investigations. The patient presented 1 month after an uncomplicated varicella infection. MRI was negative, as well as other biochemical and immunological examinations. Whole-exome sequencing of blood-derived DNA detected a heterozygous paternally inherited variant NM_006267.4(RANBP2):c.5233A>G p.(Ile1745Val) (Chr2[GRCh37]:g.109382228A>G), a gene associated with a susceptibility to infection-induced acute necrotizing encephalopathy. No combination of anti-seizure medication led to a sustained seizure freedom and the patient warranted induction of propofol anesthesia with high-dose intravenous midazolam and continuous respiratory support that however failed to abort seizure activity. Brain biopsy revealed FCD type IIa; this finding led to the indication of an emergency right-sided hemispherotomy that rendered the patient temporarily seizure-free. Postsurgically, he remains on antiseizure medication and experiences rare nondisabling seizures. This report highlights a uniquely severe clinical course of FCD putatively modified by the RANBP2 variant. PLAIN LANGUAGE SUMMARY: We report a case summary of a patient who came to our attention for epilepsy that could not be controlled with medication. His clinical course progressed rapidly to life-threatening status epilepticus with other unusual neurological findings. Therefore, we decided to surgically remove a piece of brain tissue in order to clarify the diagnosis that showed features of a structural brain abnormality associated with severe epilepsy, the focal cortical dysplasia. Later, a genetic variant in a gene associated with another condition, was found, and we hypothesize that this genetic variant could have contributed to this severe clinical course of our patient.
- Klíčová slova
- RANBP2, epilepsy surgery, focal cortical dysplasia, hemispherotomy, refractory status epilepticus,
- MeSH
- dítě MeSH
- DNA MeSH
- epilepsie * komplikace MeSH
- fokální kortikální dysplazie * MeSH
- komplex proteinů jaderného póru * MeSH
- lidé MeSH
- midazolam MeSH
- molekulární chaperony * MeSH
- nemoci mozku * MeSH
- předškolní dítě MeSH
- progrese nemoci MeSH
- refrakterní epilepsie * genetika chirurgie MeSH
- status epilepticus * genetika chirurgie MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- Názvy látek
- DNA MeSH
- komplex proteinů jaderného póru * MeSH
- midazolam MeSH
- molekulární chaperony * MeSH
- ran-binding protein 2 MeSH Prohlížeč
-
Straka, Barbora
Autor Straka, Barbora ORCID Department of Paediatric Neurology (B.S., B.H., A.M., P.L., P.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Pathology and Molecular Medicine (L.K., J.Z.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Biology and Medical Genetics (M.V., M.B., P.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Faculty of Electrical Engineering (P.J.), Department of Circuit Theory, Czech Technical University in Prague; Department of Neurosurgery (M.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Radiology (M.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; and Department of Neurology (P.M.), Second Faculty of Medicine, Charles University and Motol University Hospital, Czech Republic
-
Hermanovska, Barbora
Autor Hermanovska, Barbora Department of Paediatric Neurology (B.S., B.H., A.M., P.L., P.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Pathology and Molecular Medicine (L.K., J.Z.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Biology and Medical Genetics (M.V., M.B., P.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Faculty of Electrical Engineering (P.J.), Department of Circuit Theory, Czech Technical University in Prague; Department of Neurosurgery (M.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Radiology (M.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; and Department of Neurology (P.M.), Second Faculty of Medicine, Charles University and Motol University Hospital, Czech Republic
-
Krskova, Lenka
Autor Krskova, Lenka Department of Paediatric Neurology (B.S., B.H., A.M., P.L., P.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Pathology and Molecular Medicine (L.K., J.Z.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Biology and Medical Genetics (M.V., M.B., P.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Faculty of Electrical Engineering (P.J.), Department of Circuit Theory, Czech Technical University in Prague; Department of Neurosurgery (M.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Radiology (M.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; and Department of Neurology (P.M.), Second Faculty of Medicine, Charles University and Motol University Hospital, Czech Republic
-
Zamecnik, Josef
Autor Zamecnik, Josef Department of Paediatric Neurology (B.S., B.H., A.M., P.L., P.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Pathology and Molecular Medicine (L.K., J.Z.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Biology and Medical Genetics (M.V., M.B., P.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Faculty of Electrical Engineering (P.J.), Department of Circuit Theory, Czech Technical University in Prague; Department of Neurosurgery (M.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Radiology (M.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; and Department of Neurology (P.M.), Second Faculty of Medicine, Charles University and Motol University Hospital, Czech Republic
-
Vlckova, Marketa
Autor Vlckova, Marketa Department of Paediatric Neurology (B.S., B.H., A.M., P.L., P.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Pathology and Molecular Medicine (L.K., J.Z.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Biology and Medical Genetics (M.V., M.B., P.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Faculty of Electrical Engineering (P.J.), Department of Circuit Theory, Czech Technical University in Prague; Department of Neurosurgery (M.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Radiology (M.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; and Department of Neurology (P.M.), Second Faculty of Medicine, Charles University and Motol University Hospital, Czech Republic
-
Balascakova, Miroslava
Autor Balascakova, Miroslava Department of Paediatric Neurology (B.S., B.H., A.M., P.L., P.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Pathology and Molecular Medicine (L.K., J.Z.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Biology and Medical Genetics (M.V., M.B., P.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Faculty of Electrical Engineering (P.J.), Department of Circuit Theory, Czech Technical University in Prague; Department of Neurosurgery (M.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Radiology (M.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; and Department of Neurology (P.M.), Second Faculty of Medicine, Charles University and Motol University Hospital, Czech Republic
-
Tesner, Pavel
Autor Tesner, Pavel Department of Paediatric Neurology (B.S., B.H., A.M., P.L., P.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Pathology and Molecular Medicine (L.K., J.Z.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Biology and Medical Genetics (M.V., M.B., P.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Faculty of Electrical Engineering (P.J.), Department of Circuit Theory, Czech Technical University in Prague; Department of Neurosurgery (M.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Radiology (M.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; and Department of Neurology (P.M.), Second Faculty of Medicine, Charles University and Motol University Hospital, Czech Republic
-
Jezdik, Petr
Autor Jezdik, Petr Department of Paediatric Neurology (B.S., B.H., A.M., P.L., P.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Pathology and Molecular Medicine (L.K., J.Z.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Biology and Medical Genetics (M.V., M.B., P.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Faculty of Electrical Engineering (P.J.), Department of Circuit Theory, Czech Technical University in Prague; Department of Neurosurgery (M.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Radiology (M.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; and Department of Neurology (P.M.), Second Faculty of Medicine, Charles University and Motol University Hospital, Czech Republic
-
Tichy, Michal
Autor Tichy, Michal Department of Paediatric Neurology (B.S., B.H., A.M., P.L., P.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Pathology and Molecular Medicine (L.K., J.Z.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Biology and Medical Genetics (M.V., M.B., P.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Faculty of Electrical Engineering (P.J.), Department of Circuit Theory, Czech Technical University in Prague; Department of Neurosurgery (M.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Radiology (M.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; and Department of Neurology (P.M.), Second Faculty of Medicine, Charles University and Motol University Hospital, Czech Republic
-
Kyncl, Martin
Autor Kyncl, Martin Department of Paediatric Neurology (B.S., B.H., A.M., P.L., P.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Pathology and Molecular Medicine (L.K., J.Z.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Biology and Medical Genetics (M.V., M.B., P.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Faculty of Electrical Engineering (P.J.), Department of Circuit Theory, Czech Technical University in Prague; Department of Neurosurgery (M.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Radiology (M.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; and Department of Neurology (P.M.), Second Faculty of Medicine, Charles University and Motol University Hospital, Czech Republic
PubMed
36324633
PubMed Central
PMC9621608
DOI
10.1212/nxg.0000000000200032
PII: NXG-2022-200035
Knihovny.cz E-zdroje
BACKGROUND AND OBJECTIVES: Malformations of cortical development (MCD), though individually rare, constitute a significant burden of disease. The diagnostic yield of next-generation sequencing (NGS) in these patients varies across studies and methods, and novel genes and variants continue to emerge. METHODS: Patients (n = 123) with a definite radiologic or histopathologic diagnosis of MCD, with or without epilepsy were included in this study. They underwent NGS-based targeted gene panel (TGP) testing, whole-exome sequencing (WES), or WES-based virtual panel testing. Selected patients who underwent epilepsy surgery (n = 69) also had somatic gene testing of brain tissue-derived DNA. We analyzed predictors of positive germline genetic finding and diagnostic yield of respective methods. RESULTS: Pathogenic or likely pathogenic germline genetic variants were detected in 21% of patients (26/123). In the surgical subgroup (69/123), we performed somatic sequencing in 40% of cases (28/69) and detected causal variants in 18% (5/28). Diagnostic yield did not differ between TGP, WES-based virtual gene panel, and open WES (p = 0.69). Diagnosis of focal cortical dysplasia type 2A, epilepsy, and intellectual disability were associated with positive results of germline testing. We report previously unpublished variants in 16/26 patients and 4 cases of MCD with likely pathogenic variants in non-MCD genes. DISCUSSION: In this study, we are reporting genetic findings of a large cohort of MCD patients with epilepsy or potentially epileptogenic MCD. We determine predictors of successful ascertainment of a genetic diagnosis in real-life setting and report novel, likely pathogenic variants in MCD and non-MCD genes alike.
- Publikační typ
- časopisecké články MeSH
Sdílet
Název dokumentu
Po ukončení testovacího provozu bude odkaz přesměrován adresu produkční verze portálu Medvik.