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Epilepsia, ISSN 0013-9580, 11/2011, Volume 52, Issue 11, pp. 2133 - 2138
Journal Article
Journal Article
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
Neuroscience and Biobehavioral Reviews, ISSN 0149-7634, 10/2014, Volume 46, Issue 2, pp. 202 - 217
Clinical manifestations typical of mitochondrial diseases are often present in various genetic syndromes associated with intellectual disability, a condition... 
Neuroplasticity | Oxidative stress | Epigallocatechine-3-gallate | Mitochondrial dysfunction | Down syndrome | Drug development | Neurogenesis | Autism | Mitochondria | Intellectual disability | Oxidative phosphorylation | Rett syndrome | Fragile X | ALZHEIMERS-DISEASE | SPECTRUM DISORDERS | ELEMENT-BINDING PROTEIN | SYNAPTIC PLASTICITY | NEUROSCIENCES | REACTIVE OXYGEN | COMPLEX-I | MOUSE MODEL | BEHAVIORAL SCIENCES | MENTAL-RETARDATION PROTEIN | DOSAGE EFFECT HYPOTHESIS | Mitochondrial Diseases - pathology | Rett Syndrome - complications | Autistic Disorder - physiopathology | Autistic Disorder - metabolism | Down Syndrome - metabolism | Fragile X Syndrome - physiopathology | Humans | Mitochondrial Diseases - metabolism | Intellectual Disability - complications | Down Syndrome - physiopathology | Fragile X Syndrome - drug therapy | Intellectual Disability - metabolism | Mitochondrial Diseases - complications | Neuronal Plasticity - physiology | Down Syndrome - complications | Molecular Targeted Therapy - methods | Oxidative Phosphorylation | Fragile X Syndrome - metabolism | Mitochondria - metabolism | Antioxidants - pharmacology | Mitochondria - pathology | Fragile X Syndrome - complications | Rett Syndrome - physiopathology | Intellectual Disability - physiopathology | Rett Syndrome - metabolism | Antioxidants - therapeutic use | Models, Biological | Neurogenesis - physiology | Oxidative Stress - drug effects | Autistic Disorder - complications | Mitochondrial Diseases - physiopathology | Neurosciences | Actors | Actresses | Cells
Journal Article
The British Journal of Psychiatry, ISSN 0007-1250, 11/2008, Volume 193, Issue 5, pp. 364 - 372
Journal Article