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

To investigate the possible correlation between genotype and phenotype of epilepsy, we analyzed the voltage-gated sodium channel α1-subunit (SCN1A) gene, β1-subunit (SCN1B) gene, and γ-aminobutyric acid A receptor γ2-subunit (GABRG2) gene in DNAs from peripheral blood cells of 29 patients with sever...

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Veröffentlicht in:	Biochemical and biophysical research communications 2002-07, Vol.295 (1), p.17-23
Hauptverfasser:	Ohmori, Iori, Ouchida, Mamoru, Ohtsuka, Yoko, Oka, Eiji, Shimizu, Kenji
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Sequence Child, Preschool DNA Mutational Analysis Epilepsies, Myoclonic - diagnosis Epilepsies, Myoclonic - genetics Female GABRG2 Generalized epilepsy with febrile seizures plus Genetic Predisposition to Disease Genotype Humans Infant Male Molecular Sequence Data Mutation NAV1.1 Voltage-Gated Sodium Channel Nerve Tissue Proteins - chemistry Nerve Tissue Proteins - genetics Neuronal voltage-gated sodium channel Phenotype Protein Structure, Tertiary Receptors, GABA - genetics SCN1A SCN1B Sequence Alignment Sever myoclonic epilepsy in infancy Sodium Channels - chemistry Sodium Channels - genetics
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