Article
Mutation screening of AP3M2 in Japanese epilepsy patients.
Brain & development - 1 Sept 2007
Huang Ming-Chih, Okada Motohiro, Nakatsu Fubito, Oguni Hirokazu, Ito Masatoshi, Morita Kohtaro, Nagafuji Hiroshi, Hirose Shinichi, Sakaki Yoshiyuki, Kaneko Sunao, Ohno Hiroshi, Kojima Toshio
Abstract excerpt
Evidence that some types of epilepsies show strong genetic predisposition has been well documented. AP3M2 is considered to be an epileptogenic gene because AP3M2 knockout mice exhibit symptoms of spontaneous epileptic seizures. In order to investigate whether the AP3M2 gene causes susceptibility to epilepsy, we performed mutation screening of the genomic DNA of 190 patients with six epilepsy types; this screening...
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