Detail
Article
Online article
FT
Medvik - BMC
  • Something wrong with this record ?

Diagnostic methods and treatment options for focal cortical dysplasia

R. Guerrini, M. Duchowny, P. Jayakar, P. Krsek, P. Kahane, L. Tassi, F. Melani, T. Polster, VM. Andre, C. Cepeda, DA. Krueger, JH. Cross, R. Spreafico, M. Cosottini, J. Gotman, F. Chassoux, P. Ryvlin, F. Bartolomei, A. Bernasconi, H. Stefan, I....

. 2015 ; 56 (11) : 1669-86. [pub] 20151005

Language English Country United States

Document type Journal Article, Research Support, Non-U.S. Gov't, Review

Our inability to adequately treat many patients with refractory epilepsy caused by focal cortical dysplasia (FCD), surgical inaccessibility and failures are significant clinical drawbacks. The targeting of physiologic features of epileptogenesis in FCD and colocalizing functionality has enhanced completeness of surgical resection, the main determinant of outcome. Electroencephalography (EEG)-functional magnetic resonance imaging (fMRI) and magnetoencephalography are helpful in guiding electrode implantation and surgical treatment, and high-frequency oscillations help defining the extent of the epileptogenic dysplasia. Ultra high-field MRI has a role in understanding the laminar organization of the cortex, and fluorodeoxyglucose-positron emission tomography (FDG-PET) is highly sensitive for detecting FCD in MRI-negative cases. Multimodal imaging is clinically valuable, either by improving the rate of postoperative seizure freedom or by reducing postoperative deficits. However, there is no level 1 evidence that it improves outcomes. Proof for a specific effect of antiepileptic drugs (AEDs) in FCD is lacking. Pathogenic mutations recently described in mammalian target of rapamycin (mTOR) genes in FCD have yielded important insights into novel treatment options with mTOR inhibitors, which might represent an example of personalized treatment of epilepsy based on the known mechanisms of disease. The ketogenic diet (KD) has been demonstrated to be particularly effective in children with epilepsy caused by structural abnormalities, especially FCD. It attenuates epigenetic chromatin modifications, a master regulator for gene expression and functional adaptation of the cell, thereby modifying disease progression. This could imply lasting benefit of dietary manipulation. Neurostimulation techniques have produced variable clinical outcomes in FCD. In widespread dysplasias, vagus nerve stimulation (VNS) has achieved responder rates >50%; however, the efficacy of noninvasive cranial nerve stimulation modalities such as transcutaneous VNS (tVNS) and noninvasive (nVNS) requires further study. Although review of current strategies underscores the serious shortcomings of treatment-resistant cases, initial evidence from novel approaches suggests that future success is possible.

Clinical Epileptology and Experimental Neurophysiology Unit Neurological InstituteC Besta Milan Italy

Department of Child Neurology Bethel Epilepsy Center Bielefeld Germany

Department of Clinical Neurosciences CHUV Lausanne Switzerland Translational and Integrative Group in Epilepsy Research Lyon's Neuroscience Center INSERM U1028 CNRS 5292 UCBL Le Vinatier Hospital Bron Lyon France

Department of Neurology and Comprehensive Epilepsy Program Brain Institute Miami Children's Hospital Miami Florida U S A

Department of Neurology Miami Children's Hospital Miami Florida U S A

Department of Neuropathology University Hospital Erlangen Erlangen Germany

Department of Pediatric Neurology 2nd Faculty of Medicine Motol University Hospital Charles University Prague Czech Republic

Department of Translational Research and New Technologies in Medicine and Surgery University of Pisa Pisa Italy

Division of Neurology Department of Pediatrics Cincinnati Children's Hospital Medical Center University of Cincinnati College of Medicine Cincinnati Ohio U S A

Epilepsy Center Erlangen University Erlangen Nürnberg Erlangen Germany

Epilepsy Center Neurological Institute Cleveland Clinic Cleveland OH U S A

Epilepsy Surgery Center Niguarda Hospital Milan Italy

Epilepsy Unit Sainte Anne Hospital Paris France

Faculty of Medicine INSERM U1106 Institute of Neurosciences of Systems Marseille France Faculty of Medicine Aix Marseille University Marseille France Clinical Neurophysiology Unit Department of Clinical Neurosciences CHU Timone Marseille France Henri Gastaut Hospital Saint Paul Center Marseille France

INSERM U836 University of Grenoble Alpes GIN Grenoble France Epilepsy Unit Michallon Hospital Grenoble France

Intellectual and Developmental Disabilities Research Center David Geffen School of Medicine University of California at Los Angeles Los Angeles California U S A

Laboratory for Clinical and Experimental Neurophysiology Neurobiology and Neuropsychology Department of Neurology Ghent University Ghent Belgium

Montreal Neurological Institute and Hospital McGill University Montreal Quebec Canada

Neuroimaging of Epilepsy Laboratory McConnell Brain Imaging Center Montreal Neurological Institute and Hospital McGill University Montreal Quebec Canada

Neuroscience Program and the Comprehensive Epilepsy Center Miami Children's Hospital Miami Florida U S A

Neurosurgery Department Sainte Anne Hospital Paris France

Pediatric Neurology and Neurogenetics Unit and Laboratories Children's Hospital Meyer University of Florence Florence Italy

Pediatric Neurology and Neurogenetics Unit and Laboratories Children's Hospital Meyer University of Florence Florence Italy IRCCS Stella Maris Foundation Pisa Italy

Pediatric Neurosurgery Unit Children's Hospital Meyer University of Florence Florence Italy

UCB Pharma Neurosciences Therapeutic Area Braine l'Alleud Belgium

UCL Institute of Child Health Great Ormond Street Hospital for Children NHS Foundation Trust London United Kingdom Young Epilepsy Lingfield United Kingdom

References provided by Crossref.org

000      
00000naa a2200000 a 4500
001      
bmc16009939
003      
CZ-PrNML
005      
20190603134211.0
007      
ta
008      
160408s2015 xxu f 000 0|eng||
009      
AR
024    7_
$a 10.1111/epi.13200 $2 doi
024    7_
$a 10.1111/epi.13200 $2 doi
035    __
$a (PubMed)26434565
040    __
$a ABA008 $b cze $d ABA008 $e AACR2
041    0_
$a eng
044    __
$a xxu
100    1_
$a Guerrini, Renzo $u Pediatric Neurology and Neurogenetics Unit and Laboratories, Children's Hospital Meyer-University of Florence, Florence, Italy. IRCCS Stella Maris Foundation, Pisa, Italy.
245    10
$a Diagnostic methods and treatment options for focal cortical dysplasia / $c R. Guerrini, M. Duchowny, P. Jayakar, P. Krsek, P. Kahane, L. Tassi, F. Melani, T. Polster, VM. Andre, C. Cepeda, DA. Krueger, JH. Cross, R. Spreafico, M. Cosottini, J. Gotman, F. Chassoux, P. Ryvlin, F. Bartolomei, A. Bernasconi, H. Stefan, I. Miller, B. Devaux, I. Najm, F. Giordano, K. Vonck, C. Barba, I. Blumcke,
520    9_
$a Our inability to adequately treat many patients with refractory epilepsy caused by focal cortical dysplasia (FCD), surgical inaccessibility and failures are significant clinical drawbacks. The targeting of physiologic features of epileptogenesis in FCD and colocalizing functionality has enhanced completeness of surgical resection, the main determinant of outcome. Electroencephalography (EEG)-functional magnetic resonance imaging (fMRI) and magnetoencephalography are helpful in guiding electrode implantation and surgical treatment, and high-frequency oscillations help defining the extent of the epileptogenic dysplasia. Ultra high-field MRI has a role in understanding the laminar organization of the cortex, and fluorodeoxyglucose-positron emission tomography (FDG-PET) is highly sensitive for detecting FCD in MRI-negative cases. Multimodal imaging is clinically valuable, either by improving the rate of postoperative seizure freedom or by reducing postoperative deficits. However, there is no level 1 evidence that it improves outcomes. Proof for a specific effect of antiepileptic drugs (AEDs) in FCD is lacking. Pathogenic mutations recently described in mammalian target of rapamycin (mTOR) genes in FCD have yielded important insights into novel treatment options with mTOR inhibitors, which might represent an example of personalized treatment of epilepsy based on the known mechanisms of disease. The ketogenic diet (KD) has been demonstrated to be particularly effective in children with epilepsy caused by structural abnormalities, especially FCD. It attenuates epigenetic chromatin modifications, a master regulator for gene expression and functional adaptation of the cell, thereby modifying disease progression. This could imply lasting benefit of dietary manipulation. Neurostimulation techniques have produced variable clinical outcomes in FCD. In widespread dysplasias, vagus nerve stimulation (VNS) has achieved responder rates >50%; however, the efficacy of noninvasive cranial nerve stimulation modalities such as transcutaneous VNS (tVNS) and noninvasive (nVNS) requires further study. Although review of current strategies underscores the serious shortcomings of treatment-resistant cases, initial evidence from novel approaches suggests that future success is possible.
650    _2
$a antikonvulziva $x terapeutické užití $7 D000927
650    _2
$a refrakterní epilepsie $x diagnóza $x epidemiologie $x terapie $7 D000069279
650    _2
$a elektroencefalografie $x metody $7 D004569
650    _2
$a lidé $7 D006801
650    _2
$a magnetická rezonanční tomografie $x metody $7 D008279
650    _2
$a malformace mozkové kůry $x diagnóza $x epidemiologie $x terapie $7 D054220
650    _2
$a výsledek terapie $7 D016896
655    _2
$a časopisecké články $7 D016428
655    _2
$a práce podpořená grantem $7 D013485
655    _2
$a přehledy $7 D016454
700    1_
$a Duchowny, Michael $u Neuroscience Program and the Comprehensive Epilepsy Center, Miami Children's Hospital, Miami, Florida, U.S.A.
700    1_
$a Jayakar, Prasanna $u Department of Neurology, Miami Children's Hospital, Miami, Florida, U.S.A.
700    1_
$a Krsek, Pavel $u Department of Pediatric Neurology, 2nd Faculty of Medicine, Motol University Hospital, Charles University, Prague, Czech Republic.
700    1_
$a Kahane, Philippe $u INSERM U836, University of Grenoble Alpes, GIN, Grenoble, France. Epilepsy Unit, Michallon Hospital, Grenoble, France.
700    1_
$a Tassi, Laura $u Epilepsy Surgery Center, Niguarda Hospital, Milan, Italy.
700    1_
$a Melani, Federico $u Pediatric Neurology and Neurogenetics Unit and Laboratories, Children's Hospital Meyer-University of Florence, Florence, Italy.
700    1_
$a Polster, Tilman $u Department of Child Neurology, Bethel Epilepsy Center, Bielefeld, Germany.
700    1_
$a Andre, Véronique M $u UCB Pharma, Neurosciences Therapeutic Area, Braine-l'Alleud, Belgium. $7 gn_A_00006379
700    1_
$a Cepeda, Carlos $u Intellectual and Developmental Disabilities Research Center, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, U.S.A.
700    1_
$a Krueger, Darcy A $u Division of Neurology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio, U.S.A.
700    1_
$a Cross, J Helen $u UCL-Institute of Child Health, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom. Young Epilepsy, Lingfield, United Kingdom.
700    1_
$a Spreafico, Roberto $u Clinical Epileptology and Experimental Neurophysiology Unit, Neurological InstituteC. Besta", Milan, Italy.
700    1_
$a Cosottini, Mirco $u Department of Translational Research and New Technologies in Medicine and Surgery, University of Pisa, Pisa, Italy.
700    1_
$a Gotman, Jean $u Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada.
700    1_
$a Chassoux, Francine $u Epilepsy Unit, Sainte-Anne Hospital, Paris, France.
700    1_
$a Ryvlin, Philippe $u Department of Clinical Neurosciences, CHUV, Lausanne, Switzerland. Translational and Integrative Group in Epilepsy Research (TIGER) and Institute for Epilepsies (IDEE), Lyon's Neuroscience Center, INSERM U1028, CNRS 5292, UCBL, Le Vinatier Hospital, Bron, Lyon, France.
700    1_
$a Bartolomei, Fabrice $u Faculty of Medicine, INSERM, U1106, Institute of Neurosciences of Systems, Marseille, France. Faculty of Medicine, Aix Marseille University, Marseille, France. Clinical Neurophysiology Unit, Department of Clinical Neurosciences, CHU Timone, Marseille, France. Henri-Gastaut Hospital, Saint-Paul Center, Marseille, France.
700    1_
$a Bernasconi, Andrea $u Neuroimaging of Epilepsy Laboratory, McConnell Brain Imaging Center, Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada.
700    1_
$a Stefan, Hermann $u Epilepsy Center Erlangen (ZEE), University Erlangen-Nürnberg, Erlangen, Germany.
700    1_
$a Miller, Ian $u Department of Neurology and Comprehensive Epilepsy Program, Brain Institute, Miami Children's Hospital, Miami, Florida, U.S.A.
700    1_
$a Devaux, Bertrand $u Neurosurgery Department, Sainte-Anne Hospital, Paris, France.
700    1_
$a Najm, Imad $7 xx0236668 $u Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH, U.S.A.
700    1_
$a Giordano, Flavio $u Pediatric Neurosurgery Unit, Children's Hospital Meyer-University of Florence, Florence, Italy.
700    1_
$a Vonck, Kristl $u Laboratory for Clinical and Experimental Neurophysiology, Neurobiology and Neuropsychology, Department of Neurology, Ghent University, Ghent, Belgium.
700    1_
$a Barba, Carmen $u Pediatric Neurology and Neurogenetics Unit and Laboratories, Children's Hospital Meyer-University of Florence, Florence, Italy.
700    1_
$a Blumcke, Ingmar $u Department of Neuropathology, University Hospital Erlangen, Erlangen, Germany.
773    0_
$w MED00001567 $t Epilepsia $x 1528-1167 $g Roč. 56, č. 11 (2015), s. 1669-86
856    41
$u https://pubmed.ncbi.nlm.nih.gov/26434565 $y Pubmed
910    __
$a ABA008 $b sig $c sign $y a $z 0
990    __
$a 20160408 $b ABA008
991    __
$a 20190603134344 $b ABA008
999    __
$a ok $b bmc $g 1113368 $s 934307
BAS    __
$a 3
BAS    __
$a PreBMC
BMC    __
$a 2015 $b 56 $c 11 $d 1669-86 $e 20151005 $i 1528-1167 $m Epilepsia $n Epilepsia $x MED00001567
LZP    __
$a Pubmed-20160408

Find record

Citation metrics

Loading data ...

Archiving options

Loading data ...