A homozygous mutation of voltage-gated sodium channel βi gene SCN1B in a patient with Dravet syndrome

Epilepsia

Volumn 53, Issue 12, 2012, Pages

  Ogiwara, Ikuo ^a   Nakayama, Tojo ^a,b   Yamagata, Tetsushi ^a   Ohtani, Hideyuki ^c   Mazaki, Emi ^a   Tsuchiya, Shigeru ^b   Inoue, Yushi ^c   Yamakawa, Kazuhiro ^a  

^a RIKEN BRAIN SCIENCE INSTITUTE   (Japan)

^b TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

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

Author keywords

Dravet syndrome; SCN1B; Voltage gated sodium channel I

Indexed keywords

ARGININE; CYSTEINE; ISOLEUCINE; PHENYLALANINE; UNCLASSIFIED DRUG; VOLTAGE GATED SODIUM CHANNEL; VOLTAGE GATED SODIUM CHANNEL ALPHA1; VOLTAGE GATED SODIUM CHANNEL BETA1;

ADULT; ARTICLE; ATAXIA; COGNITIVE DEFECT; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE SEVERITY; GENE; GENE MUTATION; GENETIC SCREENING; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE MARKER; PHENOTYPE; PRIORITY JOURNAL; SCN1B GENE; SCN2A GENE; SEVERE MYOCLONIC EPILEPSY IN INFANCY;

DNA MUTATIONAL ANALYSIS; EPILEPSIES, MYOCLONIC; HOMOZYGOTE; HUMANS; MALE; MICROSATELLITE REPEATS; MUTATION; VOLTAGE-GATED SODIUM CHANNEL BETA-1 SUBUNIT; YOUNG ADULT;

EID: 84870608854     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.12040     Document Type: Article

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