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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
Journal Article
Autism Research, ISSN 1939-3792, 12/2013, Volume 6, Issue 6, pp. 468 - 478
Journal Article
PLoS ONE, ISSN 1932-6203, 2011, Volume 6, Issue 6, p. e20835
Journal Article
Journal of Speech, Language, and Hearing Research, ISSN 1092-4388, 1201, Volume 54, Issue 6, pp. 1562 - 1576
Purpose: To examine patterns of sensory responsiveness (i.e., hyperresponsiveness, hyporesponsiveness, and sensory seeking) as factors that may account for... 
Language | Developmental disorders | Autism | DIAGNOSTIC INTERVIEW | ABNORMALITIES | SPECTRUM DISORDERS | language | SYMPTOMS | autism | LINGUISTICS | EXPERIENCES QUESTIONNAIRE | ABILITIES | TYPICAL DEVELOPMENT | REHABILITATION | JOINT ATTENTION | developmental disorders | YOUNG-CHILDREN | BEHAVIORS | Developmental Disabilities | Language Skills | Perceptual Development | Severity (of Disability) | Social Development | Responses | Communication Skills | Sensory Experience | Skill Development | Language Acquisition | Language Impairments | Children | Symptoms (Individual Disorders) | Developmental Disabilities - physiopathology | Sensation Disorders - physiopathology | Autistic Disorder - physiopathology | Humans | Language Development | Sensation Disorders - psychology | Child, Preschool | Male | Autistic Disorder - psychology | Language Development Disorders - complications | Language Development Disorders - psychology | Child Behavior | Language Tests | Child Language | Social Behavior | Female | Language Development Disorders - physiopathology | Autistic Disorder - complications | Developmental Disabilities - complications | Communication | Developmental Disabilities - psychology | Sensation Disorders - complications | Psychological aspects | Development and progression | Interpersonal communication in children | Abnormalities | Behavior | Skills | Children & youth
Journal Article