Article
A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions.
Brain & development - 1 Jan 2009
Ishii Atsushi, Fukuma Goryu, Uehara Akira, Miyajima Tasuku, Makita Yoshio, Hamachi Akiyo, Yasukochi Midori, Inoue Takahito, Yasumoto Sawa, Okada Motohiro, Kaneko Sunao, Mitsudome Akihisa, Hirose Shinichi
Abstract excerpt
BACKGROUND: The underlying genetic abnormalities of rare familial idiopathic epilepsy have been identified, such as mutation in KCNQ2, a K(+) channel gene. Yet, few genetic abnormalities have been reported for commoner epilepsy, i.e., sporadic idiopathic epilepsy, which share a phenotype similar to those of familial epilepsy. OBJECTIVE: To search for the genetic cause of seizures in a girl with the diagnosis of...
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