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Autor
Chipaux, Mathilde 3 Guerrini, Renzo 3 Krsek, Pavel 3 Baldassari, Sara 2 Barba, Carmen 2 Baulac, Stéphanie 2 Bien, Christian G 2 Blumcke, Ingmar 2 Catenoix, Hélène 2 Cloppenborg, Thomas 2 Jansen, Floor E 2 Poduri, Annapurna 2 Polster, Tilman 2 Straka, Barbora 2 Achaz, Guillaume 1 Aichholzer, Martin 1 Aronica, Eleonora 1 Arzimanoglou, Alexis A 1 Balci, Meral 1 Balestrini, Simona 1
- Organizace
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Pracoviště
University of Florence Florence Italy 2 Bethel Epilepsy Centre Bielefeld Germany 1 Boston Children's Hospital and Harvar... 1 Broad Institute of Harvard and M 1 T ... 1 CHU Reims American Memorial Hospital ... 1 CHU Reims Hôpital Maison Blanche Pôle... 1 CNRS UMR 5292 INSERM U1028 CNRL et Un... 1 Center for Pediatric Neurology Neuror... 1 Center for Rare and Complex Epilepsie... 1 Centre Hospitalier Universitaire de R... 1 Centre de Référence Anomalies du Déve... 1 Charles University 2nd Faculty of Med... 1 Children's Hospital Los Angeles Keck ... 1 Cleveland Clinic Cleveland OH 1 Clinical and Experimental Neurology B... 1 Clinique Bernoise Crans Montana Switz... 1 Columbia University New York NY 1 Danish Epilepsy Centre Dianalund 1 Danish Epilepsy Centre Dianalund Denmark 1 Danish Epilepsy Centre Dianalund Univ... 1
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Autor
Chipaux, Mathilde 3 Guerrini, Renzo 3 Krsek, Pavel 3 Baldassari, Sara 2 Barba, Carmen 2 Baulac, Stéphanie 2 Bien, Christian G 2 Blumcke, Ingmar 2 Catenoix, Hélène 2 Cloppenborg, Thomas 2 Jansen, Floor E 2 Poduri, Annapurna 2 Polster, Tilman 2 Straka, Barbora 2 Achaz, Guillaume 1 Aichholzer, Martin 1 Aronica, Eleonora 1 Arzimanoglou, Alexis A 1 Balci, Meral 1 Balestrini, Simona 1
- Organizace
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Pracoviště
University of Florence Florence Italy 2 Bethel Epilepsy Centre Bielefeld Germany 1 Boston Children's Hospital and Harvar... 1 Broad Institute of Harvard and M 1 T ... 1 CHU Reims American Memorial Hospital ... 1 CHU Reims Hôpital Maison Blanche Pôle... 1 CNRS UMR 5292 INSERM U1028 CNRL et Un... 1 Center for Pediatric Neurology Neuror... 1 Center for Rare and Complex Epilepsie... 1 Centre Hospitalier Universitaire de R... 1 Centre de Référence Anomalies du Déve... 1 Charles University 2nd Faculty of Med... 1 Children's Hospital Los Angeles Keck ... 1 Cleveland Clinic Cleveland OH 1 Clinical and Experimental Neurology B... 1 Clinique Bernoise Crans Montana Switz... 1 Columbia University New York NY 1 Danish Epilepsy Centre Dianalund 1 Danish Epilepsy Centre Dianalund Denmark 1 Danish Epilepsy Centre Dianalund Univ... 1
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Chipaux, Mathilde* Dotaz Zobrazit nápovědu
BACKGROUND AND OBJECTIVES: The SLC35A2 gene, located at chromosome Xp11.23, encodes for a uridine diphosphate-galactose transporter. We describe clinical, genetic, neuroimaging, EEG, and histopathologic findings and assess possible predictors of postoperative seizure and cognitive outcome in 47 patients with refractory epilepsy and brain somatic SLC35A2 gene variants. METHODS: This is a retrospective multicenter study where we performed a descriptive analysis and classical hypothesis testing. We included the variables of interest significantly associated with the outcomes in the generalized linear models. RESULTS: Two main phenotypes were associated with brain somatic SLC35A2 variants: (1) early epileptic encephalopathy (EE, 39 patients) with epileptic spasms as the predominant seizure type and moderate to severe intellectual disability and (2) drug-resistant focal epilepsy (DR-FE, 8 patients) associated with normal/borderline cognitive function and specific neuropsychological deficits. Brain MRI was abnormal in all patients with EE and in 50% of those with DR-FE. Histopathology review identified mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy in 44/47 patients and was inconclusive in 3. The 47 patients harbored 42 distinct mosaic SLC35A2 variants, including 14 (33.3%) missense, 13 (30.9%) frameshift, 10 (23.8%) nonsense, 4 (9.5%) in-frame deletions/duplications, and 1 (2.4%) splicing variant. Variant allele frequencies (VAFs) ranged from 1.4% to 52.6% (mean VAF: 17.3 ± 13.5). At last follow-up (35.5 ± 21.5 months), 30 patients (63.8%) were in Engel Class I, of which 26 (55.3%) were in Class IA. Cognitive performances remained unchanged in most patients after surgery. Regression analyses showed that the probability of achieving both Engel Class IA and Class I outcomes, adjusted by age at seizure onset, was lower when the duration of epilepsy increased and higher when postoperative EEG was normal or improved. Lower brain VAF was associated with improved postoperative cognitive outcome in the analysis of associations, but this finding was not confirmed in regression analyses. DISCUSSION: Brain somatic SLC35A2 gene variants are associated with 2 main clinical phenotypes, EE and DR-FE, and a histopathologic diagnosis of MOGHE. Additional studies will be needed to delineate any possible correlation between specific genetic variants, mutational load in the epileptogenic tissue, and surgical outcomes.
- MeSH
- elektroencefalografie MeSH
- epilepsie * genetika chirurgie diagnóza MeSH
- lidé MeSH
- mozek diagnostické zobrazování chirurgie patologie MeSH
- refrakterní epilepsie * genetika chirurgie patologie MeSH
- retrospektivní studie MeSH
- výsledek terapie MeSH
- záchvaty patologie MeSH
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- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- multicentrická studie MeSH
- práce podpořená grantem MeSH
- Research Support, N.I.H., Extramural MeSH
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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
-
Baldassari, Sara
Autor Baldassari, Sara Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013, Paris, France. INSERM, U1127, F-75013, Paris, France. CNRS, UMR 7225, F-75013, Paris, France. Institut du Cerveau et de la Moelle épinière (ICM), Hôpital Pitié-Salpêtrière, F-75013, Paris, France. Department of Genetics, Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Pitié-Salpêtrière, F-75013, Paris, France
- Picard, Fabienne
- Verbeek, Nienke E
- van Kempen, Marjan
- Brilstra, Eva H
- Lesca, Gaetan
- Conti, Valerio
- Guerrini, Renzo
- Bisulli, Francesca
- Licchetta, Laura
NLK
ProQuest Central
od 2011-01-01 do 2021-12-31
Health & Medicine (ProQuest)
od 2011-01-01 do 2021-12-31
Elsevier Open Access Journals
od 1998-11-01 do Před 1 rokem
ROAD: Directory of Open Access Scholarly Resources
od 1998
PubMed
30093711
DOI
10.1038/s41436-018-0060-2
Knihovny.cz E-zdroje
PURPOSE: To define the phenotypic and mutational spectrum of epilepsies related to DEPDC5, NPRL2 and NPRL3 genes encoding the GATOR1 complex, a negative regulator of the mTORC1 pathway METHODS: We analyzed clinical and genetic data of 73 novel probands (familial and sporadic) with epilepsy-related variants in GATOR1-encoding genes and proposed new guidelines for clinical interpretation of GATOR1 variants. RESULTS: The GATOR1 seizure phenotype consisted mostly in focal seizures (e.g., hypermotor or frontal lobe seizures in 50%), with a mean age at onset of 4.4 years, often sleep-related and drug-resistant (54%), and associated with focal cortical dysplasia (20%). Infantile spasms were reported in 10% of the probands. Sudden unexpected death in epilepsy (SUDEP) occurred in 10% of the families. Novel classification framework of all 140 epilepsy-related GATOR1 variants (including the variants of this study) revealed that 68% are loss-of-function pathogenic, 14% are likely pathogenic, 15% are variants of uncertain significance and 3% are likely benign. CONCLUSION: Our data emphasize the increasingly important role of GATOR1 genes in the pathogenesis of focal epilepsies (>180 probands to date). The GATOR1 phenotypic spectrum ranges from sporadic early-onset epilepsies with cognitive impairment comorbidities to familial focal epilepsies, and SUDEP.
- MeSH
- Brugadův syndrom genetika mortalita patofyziologie MeSH
- dítě MeSH
- epilepsie komplikace epidemiologie genetika patofyziologie MeSH
- genetická predispozice k nemoci MeSH
- kojenec MeSH
- lidé MeSH
- mechanistické cílové místo rapamycinového komplexu 1 genetika MeSH
- mladiství MeSH
- multiproteinové komplexy genetika MeSH
- mutace INDEL genetika MeSH
- mutace ztráty funkce genetika MeSH
- nádorové supresorové proteiny genetika MeSH
- novorozenec MeSH
- předškolní dítě MeSH
- proteiny aktivující GTPasu genetika MeSH
- represorové proteiny genetika MeSH
- rodokmen MeSH
- signální transdukce genetika MeSH
- variabilita počtu kopií segmentů DNA genetika MeSH
- záchvaty komplikace epidemiologie genetika patofyziologie MeSH
- Check Tag
- dítě MeSH
- kojenec MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- novorozenec MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
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