De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy

Annals of Neurology

Volumn 65, Issue 6, 2009, Pages 748-753

  Hamdan, Fadi F ^a   Piton, Amélie ^b   Gauthier, Julie ^b   Lortie, Anne ^a   Dubeau, François ^c   Dobrzeniecka, Sylvia ^b   Spiegelman, Dan ^b   Noreau, Anne ^b   Pellerin, Stéphanie ^a   Côté, Mélanie ^b   Henrion, Edouard ^b   Fombonne, Éric ^d   Mottron, Laurent ^e   Marineau, Claude ^b   Drapeau, Pierre ^f   Lafrenière, Ronald G ^b   Lacaille, Jean Claude ^f   Rouleau, Guy A ^b   Michaud, Jacques L ^a,g  

^a UNIVERSITY OF MONTREAL   (Canada)

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

^c MCGILL UNIVERSITY   (Canada)

^d MONTREAL CHILDREN S HOSPITAL   (Canada)

^e CENTRE DE RECHERCHE FERNAND SEGUIN   (Canada)

^f UNIVERSITÉ DE MONTRÉAL   (Canada)

^g UNIVERSITY OF MONTREAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

MUNC18 PROTEIN; REGULATOR PROTEIN; SYNAPTOTAGMIN I;

ADULT; ARTICLE; AUTISM; AUTOSOMAL DOMINANT INHERITANCE; CONTROLLED STUDY; EPILEPSY; FEMALE; GENE; GENE SEQUENCE; HUMAN; MAJOR CLINICAL STUDY; MENTAL DEFICIENCY; NONSENSE MUTATION; NONSYNDROMIC EPILEPSY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; STOP CODON; STX1A GENE; STXPB1 GENE; VAMP2 GENE;

EID: 67650090920     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.21625     Document Type: Article

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