Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy

European Journal of Human Genetics

Volumn 20, Issue 7, 2012, Pages 796-800

  Hamdan, Fadi F ^a   Saitsu, Hirotomo ^b   Nishiyama, Kiyomi ^b   Gauthier, Julie ^b   Dobrzeniecka, Sylvia ^c   Spiegelman, Dan ^c   Lacaille, Jean Claude ^c   Décarie, Jean Claude ^d   Matsumoto, Naomichi ^b   Rouleau, Guy A ^c   Michaud, Jacques L ^a  

^a UNIVERSITY OF MONTREAL   (Canada)

^b YOKOHAMA CITY UNIVERSITY   (Japan)

^c UNIVERSITÉ DE MONTRÉAL   (Canada)

^d UNIVERSITY OF MONTREAL   (Canada)

Author keywords

epilepsy; Intellectual disability; pontocerebellar atrophy; SPTAN1

Indexed keywords

HETERODIMER; PROTEIN SPTAN1; SPECTRIN; UNCLASSIFIED DRUG;

ARTICLE; CARBOXY TERMINAL SEQUENCE; EPILEPSY; FEMALE; GENE MUTATION; HUMAN; INFANTILE SPASM; INTELLECTUAL IMPAIRMENT; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MYELINATION; NERVE CELL; OLIVOPONTOCEREBELLAR ATROPHY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS;

ANIMALS; BRAIN; CARRIER PROTEINS; CASE-CONTROL STUDIES; CELL LINE, TUMOR; DNA MUTATIONAL ANALYSIS; EPILEPSY; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE; GENETIC TESTING; GENOME, HUMAN; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMANS; INTELLECTUAL DISABILITY; MAGNETIC RESONANCE IMAGING; MALE; MICE; MICROFILAMENT PROTEINS; MUTATION, MISSENSE; OLIVOPONTOCEREBELLAR ATROPHIES; PROTEIN STRUCTURE, TERTIARY; SEQUENCE DELETION; TRANSFECTION;

EID: 84863724905     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.271     Document Type: Article

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