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Epilepsia, ISSN 0013-9580, 02/2018, Volume 59, Issue 2, pp. 389 - 402
ObjectivePathogenic SLC6A1 variants were recently described in patients with myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set out to... 
epilepsy | MAE | epilepsy genetics | SLC | 6A1 | 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
European Journal of Paediatric Neurology, ISSN 1090-3798, 2012, Volume 17, Issue 1, pp. 29 - 35
Abstract Purpose Myoclonic astatic epilepsy (MAE, Doose syndrome) is a difficult to treat idiopathic generalized epilepsy of early childhood. MAE frequently... 
Pediatrics | Neurology | Doose syndrome | Myoclonic astatic epilepsy | Epivista | Lamotrigine | SEIZURES | VALPROATE | PEDIATRICS | CLINICAL NEUROLOGY | LENNOX-GASTAUT-SYNDROME | Triazines - therapeutic use | Humans | Anticonvulsants - therapeutic use | Child, Preschool | Female | Male | Epilepsies, Myoclonic - drug therapy | Retrospective Studies | Child | Anticonvulsants | Analysis | Epilepsy
Journal Article
Epilepsia, ISSN 0013-9580, 02/2009, Volume 50, Issue 2, pp. 304 - 317
Journal Article
Expert Opinion on Pharmacotherapy, ISSN 1465-6566, 07/2019, Volume 20, Issue 10, pp. 1289 - 1297
Introduction: Epilepsy is a prominent feature of myoclonic epilepsy with ragged-red fibers (MERRF)-syndrome. The most frequent seizure type is myoclonic... 
epilepsy | antiepileptic drugs | MERRF syndrome | gene | mitochondrial disorder | seizures | m.8344A>G | MYOCLONIC-ASTATIC EPILEPSY | TRANSFER-RNA LYS | PHENOTYPE | MITOCHONDRIAL-DNA | G8363A MUTATION | 8344A>G | MERRF/MELAS OVERLAP SYNDROME | A8344G MUTATION | PHARMACOLOGY & PHARMACY | STROKE-LIKE EPISODES | PATIENT | RAGGED-RED FIBERS
Journal Article
Seizure: European Journal of Epilepsy, ISSN 1059-1311, 2010, Volume 19, Issue 7, pp. 404 - 408
Abstract Purpose To evaluate the long-term efficacy/tolerability of the ketogenic diet (KD) in paediatric drug-resistant epilepsies. Methods Data from children... 
Neurology | Epilepsy | Ketogenic diet | Childhood | MYOCLONIC-ASTATIC EPILEPSY | SEIZURES | EFFICACY | SAFETY | CROSSOVER | ANTIEPILEPTIC DRUGS | NEUROSCIENCES | CLINICAL NEUROLOGY | CHILDREN | Diet, Ketogenic | Humans | Child, Preschool | Male | Treatment Outcome | Electroencephalography | Time | Epilepsy - diet therapy | Austria | Female | Retrospective Studies | Child | Drug Resistance | Drug resistance | Epilepsy in children | Seizures (Medicine)
Journal Article
Epilepsy and Behavior, ISSN 1525-5050, 2011, Volume 22, Issue 1, pp. 17 - 22
Journal Article