CACNA1A variants may modify the epileptic phenotype of Dravet syndrome

Neurobiology of Disease

Volumn 50, Issue 1, 2013, Pages 209-217

  Ohmori, Iori ^a   Ouchida, Mamoru ^a   Kobayashi, Katsuhiro ^a   Jitsumori, Yoshimi ^a   Mori, Akiko ^a   Michiue, Hiroyuki ^a   Nishiki, Teiichi ^a   Ohtsuka, Yoko ^a   Matsui, Hideki ^a  

^a OKAYAMA UNIVERSITY   (Japan)

Author keywords

CACNA1A; Electrophysiology; Epilepsy; Molecular genetics; SCN1A

Indexed keywords

CALCIUM CHANNEL; CALCIUM CHANNEL CAV2.1; SODIUM CHANNEL NAV1.1; UNCLASSIFIED DRUG;

ABSENCE; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CACNA1A GENE; CELL STRAIN HEK293; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CURRENT DENSITY; DISEASE DURATION; DISEASE SEVERITY; DNA MODIFICATION; DNA POLYMORPHISM; EXON; GAIN OF FUNCTION MUTATION; GENE; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MEMBRANE ELECTROPHYSIOLOGY; MEMBRANE POLARIZATION AND DEPOLARIZATION; MEMBRANE POTENTIAL; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; ONSET AGE; PATCH CLAMP; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCN1A GENE; SEVERE MYOCLONIC EPILEPSY IN INFANCY; TRUNCATION MUTATION; WHOLE CELL;

ADULT; BASE SEQUENCE; CALCIUM CHANNELS; CHILD; DNA MUTATIONAL ANALYSIS; ELECTROENCEPHALOGRAPHY; EPILEPSIES, MYOCLONIC; GENOTYPE; HUMANS; MOLECULAR SEQUENCE DATA; PATCH-CLAMP TECHNIQUES; PHENOTYPE;

EID: 84870192590     PISSN: 09699961     EISSN: 1095953X     Source Type: Journal    
DOI: 10.1016/j.nbd.2012.10.016     Document Type: Article

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