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2006, Advances in neurology, ISBN 9780781758154, Volume 97., xxvii, 595
Book
2006, ISBN 0120885549, 705
An understanding of mechanisms underlying seizure disorders depends critically on the insights provided by model systems. In particular with the development of... 
Pathophysiology | Animal models | Epilepsy | Clinical & internal medicine | Spasms
eBook
Journal Article
The Lancet, ISSN 0140-6736, 04/2006, Volume 367, Issue 9516, pp. 1087 - 1100
Journal Article
Epileptic Disorders, ISSN 1294-9361, 12/2007, Volume 9, Issue 4, pp. 353 - 412
Background. Childhood epilepsies are a heterogeneous group of conditions that differ in diagnostic criteria and management and have dramatically different... 
Pediatric epilepsy | Expert opinion | Antiepileptic drugs | Epilepsy syndromes | Consensus | Seizures | antiepileptic drugs | COMPLEX PARTIAL SEIZURES | GUIDELINE SERIES TREATMENT | expert opinion | TEMPORAL-LOBE EPILEPSY | epilepsy syndromes | CLINICAL NEUROLOGY | consensus | VAGUS NERVE-STIMULATION | BENIGN CHILDHOOD EPILEPSY | ADD-ON THERAPY | QUALITY-STANDARDS-SUBCOMMITTEE | JUVENILE MYOCLONIC EPILEPSY | IDIOPATHIC GENERALIZED EPILEPSY | pediatric epilepsy | seizures | TECHNOLOGY-ASSESSMENT SUBCOMMITTEE | Epilepsy, Absence - therapy | Epilepsy, Benign Neonatal - epidemiology | Confidence Intervals | Epilepsy, Tonic-Clonic - therapy | Humans | Child, Preschool | Infant | Male | Epilepsy, Absence - epidemiology | Epilepsy, Complex Partial - epidemiology | Epilepsy - epidemiology | Epilepsy, Tonic-Clonic - epidemiology | Epilepsy, Complex Partial - therapy | Status Epilepticus - therapy | Adult | Female | Status Epilepticus - epidemiology | Child | Epilepsy, Benign Neonatal - therapy | Spasms, Infantile - epidemiology | Data Interpretation, Statistical | Anticonvulsants - therapeutic use | Epilepsies, Myoclonic - epidemiology | Europe - epidemiology | Spasms, Infantile - therapy | Seizures, Febrile - therapy | Adolescent | Epilepsy - drug therapy | Epilepsies, Myoclonic - therapy | Seizures, Febrile - epidemiology | Epilepsy - therapy
Journal Article
Epilepsia, ISSN 0013-9580, 02/2018, Volume 59, Issue 2, pp. 389 - 402
Summary Objective Pathogenic SLC6A1 variants were recently described in patients with myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set... 
epilepsy | MAE | epilepsy genetics | SLC6A1 | MYOCLONIC-ASTATIC EPILEPSY | ATTENTION | GABA TRANSPORTERS | ILAE COMMISSION | CLASSIFICATION | TERMINOLOGY | CLINICAL NEUROLOGY | CHILDHOOD ABSENCE EPILEPSY | INTELLECTUAL DISABILITY | SEIZURES | POSITION PAPER | Epilepsy, Generalized - genetics | Epilepsies, Partial - drug therapy | Humans | Child, Preschool | Intellectual Disability - complications | Male | Electroencephalography | Neurodevelopmental Disorders - genetics | Epilepsy, Generalized - complications | Mutation, Missense | Epilepsies, Partial - physiopathology | Intellectual Disability - genetics | Young Adult | Adult | Female | Valproic Acid - therapeutic use | Language Development Disorders - physiopathology | Ataxia - genetics | Child | Epilepsies, Myoclonic - genetics | Epilepsies, Partial - complications | Ataxia - physiopathology | Genetic Association Studies | Language Development Disorders - genetics | Neurodevelopmental Disorders - complications | Anticonvulsants - therapeutic use | Epilepsies, Myoclonic - physiopathology | Treatment Outcome | Epilepsies, Myoclonic - complications | Language Development Disorders - complications | Intellectual Disability - physiopathology | GABA Plasma Membrane Transport Proteins - genetics | Phenotype | Epilepsy, Generalized - physiopathology | Epilepsy, Generalized - drug therapy | Adolescent | Ataxia - complications | Epilepsies, Myoclonic - drug therapy | Epilepsies, Partial - genetics | Mutation | Cohort Studies | Medical research | Divalproex | Epilepsy | Medicine, Experimental | Genetic aspects | Seizures (Medicine) | Valproic acid | Phenotypes | Convulsions & seizures | Sleep | Language | EEG | Cognitive ability | Speech | Ataxia | Seizures | Life Sciences | Genetics | Human genetics
Journal Article
by Allen, Andrew S and Bellows, Susannah T and Berkovic, Samuel F and Bridgers, Joshua and Burgess, Rosemary and Cavalleri, Gianpiero and Chung, Seo-Kyung and Cossette, Patrick and Delanty, Norman and Dlugos, Dennis and Epstein, Michael P and Freyer, Catharine and Goldstein, David B and Heinzen, Erin L and Hildebrand, Michael S and Johnson, Michael R and Kuzniecky, Ruben and Lowenstein, Daniel H and Marson, Anthony G and Mayeux, Richard and Mebane, Caroline and Mefford, Heather C and O'Brien, Terence J and Ottman, Ruth and Petrou, Steven and Petrovski, Slavgé and Pickrell, William O and Poduri, Annapurna and Radtke, Rodney A and Rees, Mark I and Regan, Brigid M and Ren, Zhong and Scheffer, Ingrid E and Sills, Graeme J and Thomas, Rhys H and Wang, Quanli and Abou-Khalil, Bassel and Alldredge, Brian K and Amrom, Dina and Andermann, Eva and Andermann, Frederick and Bautista, Jocelyn F and Bluvstein, Judith and Boro, Alex and Cascino, Gregory D and Consalvo, Damian and Crumrine, Patricia and Devinsky, Orrin and Fiol, Miguel and Fountain, Nathan B and French, Jacqueline and Friedman, Daniel and Geller, Eric B and Glauser, Tracy and Glynn, Simon and Haas, Kevin and Haut, Sheryl R and Hayward, Jean and Helmers, Sandra L and Joshi, Sucheta and Kanner, Andres and Kirsch, Heidi E and Knowlton, Robert C and Kossoff, Eric H and Kuperman, Rachel and Motika, Paul V and Novotny, Edward J and Paolicchi, Juliann M and Parent, Jack M and Park, Kristen and Sadleir, Lynette G and Shellhaas, Renée A and Sherr, Elliott H and Shih, Jerry J and Shinnar, Shlomo and Singh, Rani K and Sirven, Joseph and Smith, Michael C and Sullivan, Joseph and Thio, Liu Lin and Venkat, Anu and Vining, Eileen P.G and Von Allmen, Gretchen K and Weisenberg, Judith L and Widdess-Walsh, Peter and Winawer, Melodie R and Epilepsy Phenome/Genome Project and Epi4K consortium and Epilepsy Phenome-Genome Proj and Epi4k Consortium
Lancet Neurology, The, ISSN 1474-4422, 2017, Volume 16, Issue 2, pp. 135 - 143
Summary Background Despite progress in understanding the genetics of rare epilepsies, the more common epilepsies have proven less amenable to traditional... 
Neurology | RISK | SEIZURES | CLINICAL NEUROLOGY | MUTATION | DISEASE | Epilepsy, Generalized - genetics | Exome | Genetic Variation | Genetic Predisposition to Disease | Humans | Epilepsies, Partial - genetics | Sequence Analysis, DNA | Case-Control Studies | Genetic research | Genetic aspects | Analysis | Epilepsy | Proteins | Studies | Disease | Genomes | Mutation | Family medical history | Patients
Journal Article