Article
Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB).
Epilepsia - 1 Feb 2004
Fukuma Goryu, Oguni Hirokazu, Shirasaka Yukiyoshi, Watanabe Kazuyoshi, Miyajima Tasuku, Yasumoto Sawa, Ohfu Masaharu, Inoue Takahito, Watanachai Aruchalean, Kira Ryutaro, Matsuo Muneaki, Muranaka Hideki, Sofue Fumiko, Zhang Bo, Kaneko Sunao, Mitsudome Akihisa, Hirose Shinichi
Abstract excerpt
PURPOSE: Severe myoclonic epilepsy in infancy (SMEI) is a distinct epilepsy syndrome. Patients with borderline SMEI (SMEB) are a subgroup with clinical features similar to those of core SMEI but are not necessarily consistent with the accepted diagnostic criteria for core SMEI. The aim of this study was to delineate the genetic correlation between core SMEI and SMEB and to estimate the frequency of mutations in...
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