De novo mutations of voltage-gated sodium channel αiI gene SCN2A in intractable epilepsies

Neurology

Volumn 73, Issue 13, 2009, Pages 1046-1053

  Ogiwara, I ^a   Ito, K ^a,b   Sawaishi, Y ^c   Osaka, H ^d   Mazaki, E ^a   Inoue, I ^a   Montal, M ^e   Hashikawa, T ^a   Shike, T ^f   Fujiwara, T ^f   Inoue, Y ^f   Kaneda, M ^a,g   Yamakawa, K ^a  

^a RIKEN BRAIN SCIENCE INSTITUTE   (Japan)

^b UNIVERSITY OF TOKYO   (Japan)

^c AKITA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f SHIZUOKA INSTITUTE OF EPILEPSY AND NEUROLOGICAL DISORDERS   (Japan)

^g KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CLOBAZAM; CORTICOTROPIN; PHENOBARBITAL; PHENYTOIN; VALPROIC ACID; VOLTAGE GATED SODIUM CHANNEL;

ARTICLE; BRAIN DISEASE; DISEASE SEVERITY; ELECTROPHYSIOLOGY; FEMALE; GENE; GENE MUTATION; GENERALIZED EPILEPSY; HUMAN; HUMAN CELL; HYPERPOLARIZATION; INFANTILE SPASM; INTRACTABLE EPILEPSY; MAJOR CLINICAL STUDY; MALE; MYOCLONUS EPILEPSY; NUCLEOTIDE SEQUENCE; PATCH CLAMP; PHENOTYPE; PRIORITY JOURNAL; SCN2A GENE; STEADY STATE; WHOLE CELL;

EID: 70349686767     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3181b9cebc     Document Type: Article

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