Mutations of Neuronal Voltage-gated Na+ Channel α1 Subunit Gene SCN1A in Core Severe Myoclonic Epilepsy in Infancy (SMEI) and in Borderline SMEI (SMEB)

Epilepsia

Volumn 45, Issue 2, 2004, Pages 140-148

  Fukuma, Goryu ^a   Oguni, Hirokazu ^b   Shirasaka, Yukiyoshi ^c   Watanabe, Kazuyoshi ^d   Miyajima, Tasuku ^e   Yasumoto, Sawa ^a   Ohfu, Masaharu ^a   Inoue, Takahito ^a   Watanachai, Aruchalean ^a   Kira, Ryutaro ^f   Matsuo, Muneaki ^g   Muranaka, Hideki ^h   Sofue, Fumiko ^d   Zhang, Bo ^a   Kaneko, Sunao ⁱ   Mitsudome, Akihisa ^a   Hirose, Shinichi ^a  

^a FUKUOKA UNIVERSITY   (Japan)

^b TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^c KOBE CITY MEDICAL CENTER GENERAL HOSPITAL   (Japan)

^d NAGOYA UNIVERSITY   (Japan)

^e TOKYO MEDICAL UNIVERSITY   (Japan)

^f KYUSHU UNIVERSITY   (Japan)

^g SAGA UNIVERSITY   (Japan)

^h Department of Pediatrics   (Japan)

ⁱ HIROSAKI UNIVERSITY   (Japan)

Author keywords

Autosomal dominant epilepsy with febrile seizures plus (ADEFS+); Channelopathy; GABAA receptor; Generalized epilepsy with febrile seizures plus (GEFS+); Ion channel

Indexed keywords

NERVE PROTEIN; SCN1A PROTEIN; SODIUM CHANNEL; UNCLASSIFIED DRUG; VOLTAGE GATED SODIUM CHANNEL;

AMINO ACID SEQUENCE; ARTICLE; CHEMISTRY; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; DOMINANT GENE; FEMALE; GENE; GENE MUTATION; GENETICS; HUMAN; INFANT; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; MYOCLONUS EPILEPSY; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN TERTIARY STRUCTURE; SCN1A GENE;

AMINO ACID SEQUENCE; EPILEPSIES, MYOCLONIC; FEMALE; GENES, DOMINANT; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; PEDIGREE; PHENOTYPE; PROTEIN STRUCTURE, TERTIARY; SODIUM CHANNELS;

EID: 10744227466     PISSN: 00139580     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.0013-9580.2004.15103.x     Document Type: Article

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