Intellectual disability without epilepsy associated with STXBP1 disruption

European Journal of Human Genetics

Volumn 19, Issue 5, 2011, Pages 607-609

  Hamdan, Fadi F ^a,b   Gauthier, Julie ^a,c   Dobrzeniecka, Sylvia ^a,c   Lortie, Anne ^a,b   Mottron, Laurent ^a,d   Vanasse, Michel ^b   D'Anjou, Guy ^b   Lacaille, Jean Claude ^e   Rouleau, Guy A ^a,c   Michaud, Jacques L ^a,b  

^a UNIVERSITY OF MONTREAL   (Canada)

^b UNIVERSITY OF MONTREAL   (Canada)

^c CENTRE HOSPITALIER DE L UNIVERSITÉ DE MONTRÉAL   (Canada)

^d CENTRE DE RECHERCHE DE L INSTITUT UNIVERSITAIRE EN SANTÉ MENTALE DE MONTRÉAL   (Canada)

^e UNIVERSITÉ DE MONTRÉAL   (Canada)

Author keywords

Epilepsy; Intellectual deficiency; Mental retardation; STXBP1

Indexed keywords

GENOMIC DNA; METHYLPHENIDATE; MUNC18 PROTEIN; NEUROTRANSMITTER; PROTEIN STXBP 1; SYNTAXIN 1; UNCLASSIFIED DRUG;

ARTICLE; ATTENTION DISTURBANCE; BRAIN DISEASE; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITION; ELECTROCORTICOGRAPHY; ELECTROENCEPHALOGRAPHY; EPILEPSY; FEMALE; GENE DISRUPTION; GENE SEQUENCE; GENETIC ASSOCIATION; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MISSENSE MUTATION; NEUROTRANSMITTER RELEASE; NON SYNDROMIC INTELLECTUAL DISABILITY; OHTAHARA SYNDROME; PRESYNAPTIC MEMBRANE; PRIORITY JOURNAL; PROTEIN BINDING; RNA SPLICING; SECRETORY VESICLE;

ADULT; EPILEPSY; FEMALE; HUMANS; MALE; MENTAL RETARDATION; MUNC18 PROTEINS; MUTATION; YOUNG ADULT;

EID: 79955785104     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.183     Document Type: Article

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