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Molecular and Cellular Endocrinology, ISSN 0303-7207, 04/2012, Volume 352, Issue 1-2, pp. 13 - 25
Journal Article
Proceedings of the National Academy of Sciences, ISSN 0027-8424, 05/2014, Volume 111, Issue 18, pp. E1924 - E1932
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
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 2/2004, Volume 101, Issue 5, pp. 1327 - 1332
Journal Article
Journal Article