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Molecular Psychiatry, ISSN 1359-4184, 06/2014, Volume 19, Issue 6, pp. 659 - 67
Journal Article
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
European Journal of Paediatric Neurology, ISSN 1090-3798, 05/2019, Volume 23, Issue 3, pp. 404 - 409
Purpose: Epilepsy in GLUT1 deficiency syndrome is generally drug-resistant; ketogenic diet (KD) therapy is the mainstay of therapy, as production of ketones... 
Metabolic disease | Ketogenic diet | Drug-resistant epilepsy | SLC2A1 | PEDIATRICS | EPILEPSY | MUTATIONS | SPECTRUM | CLINICAL NEUROLOGY | Medical research | Diet therapy | Epilepsy | Medicine, Experimental | Seizures (Medicine) | Drug resistance | Risk factors
Journal Article
De Zeventiende Eeuw. Cultuur in de Nederlanden in interdisciplinair perspectief, ISSN 0921-142X, 12/2015, Volume 31, Issue 2, p. 344
Journal Article
NATURE COMMUNICATIONS, ISSN 2041-1723, 04/2019, Volume 10, Issue 1, pp. 1477 - 8
Phenotypic and biochemical categorization of humans with detrimental variants can provide valuable information on gene function. We illustrate this with the... 
ANIRIDIA | DIAGNOSIS | METABOLISM | GENE | ACIDS | ABNORMALITIES | MULTIDISCIPLINARY SCIENCES | PURIFICATION | DISORDERS | EXPRESSION | D-LACTIC ACIDOSIS | Excretion | Dehydrogenases | Lactate dehydrogenase | Zebrafish | Short bowel syndrome | Dehydrogenase | Metabolism | Patients | L-Lactate dehydrogenase | Intestine | Differential diagnosis | Lactic acid | Acidosis | Human behavior | Lactic acidosis
Journal Article
Biological Psychiatry, ISSN 0006-3223, 05/2018, Volume 83, Issue 9, pp. S175 - S175
Journal Article