A CACNB4 mutation shows that altered Cav2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy

Neurobiology of Disease

Volumn 32, Issue 3, 2008, Pages 349-354

  Ohmori, Iori ^a   Ouchida, Mamoru ^a   Miki, Takafumi ^b   Mimaki, Nobuyoshi ^c   Kiyonaka, Shigeki ^b   Nishiki, Teiichi ^a   Tomizawa, Kazuhito ^a   Mori, Yasuo ^b   Matsui, Hideki ^a  

^a OKAYAMA UNIVERSITY   (Japan)

^b KYOTO UNIVERSITY   (Japan)

^c University of Tokyo   (Japan)

Author keywords

CACNB4; Dravet syndrome; Genetic modifier; SCN1A; Severe myoclonic epilepsy in infancy

Indexed keywords

ARGININE; GLUTAMINE; UNCLASSIFIED DRUG; VOLTAGE GATED CALCIUM CHANNEL; VOLTAGE GATED CALCIUM CHANNEL ALPHA1A;

ARTICLE; CACNB4 GENE; CALCIUM CURRENT; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; EXON; GABRG2 GENE; GENE; GENE IDENTIFICATION; GENETIC RISK; HETEROZYGOTE; HUMAN; MALE; MISSENSE MUTATION; MYOCLONUS EPILEPSY; NEUROTRANSMITTER RELEASE; NONSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RISK FACTOR; SCN1B GENE; SEVERE MYOCLONIC EPILEPSY IN INFANCY;

BASE SEQUENCE; CALCIUM CHANNELS; CALCIUM CHANNELS, N-TYPE; CELLS, CULTURED; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EPILEPSIES, MYOCLONIC; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; INFANT, NEWBORN; MEMBRANE POTENTIALS; MUTATION; NERVE TISSUE PROTEINS; PATCH-CLAMP TECHNIQUES; PEDIGREE; RECEPTORS, GABA-A; SODIUM CHANNELS;

EID: 56349154845     PISSN: 09699961     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nbd.2008.07.017     Document Type: Article

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