Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy

Biochemical and Biophysical Research Communications

Volumn 295, Issue 1, 2002, Pages 17-23

  Ohmori, Iori ^a   Ouchida, Mamoru ^a   Ohtsuka, Yoko ^a   Oka, Eiji ^a   Shimizu, Kenji ^a  

^a OKAYAMA UNIVERSITY   (Japan)

Author keywords

GABRG2; Generalized epilepsy with febrile seizures plus; Neuronal voltage gated sodium channel; SCN1A; SCN1B; Sever myoclonic epilepsy in infancy

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR; CELL PROTEIN; PROTEIN SUBUNIT; SODIUM CHANNEL ALPHA 1 PROTEIN; SODIUM CHANNEL BETA1 PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; BLOOD CELL; CLINICAL ARTICLE; CONTROLLED STUDY; CORRELATION ANALYSIS; DISEASE SEVERITY; DNA DETERMINATION; FEMALE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENOTYPE; HUMAN; HUMAN CELL; INFANCY; INFANT; MALE; MEIOSIS; MISSENSE MUTATION; MYOCLONUS EPILEPSY; NONSENSE MUTATION; PARENT; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EPILEPSIES, MYOCLONIC; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NERVE TISSUE PROTEINS; PHENOTYPE; PROTEIN STRUCTURE, TERTIARY; RECEPTORS, GABA; SEQUENCE ALIGNMENT; SODIUM CHANNELS;

INSERTION SEQUENCES;

EID: 0036304363     PISSN: 0006291X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0006-291X(02)00617-4     Document Type: Article

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