Article
PCDH19 mutation in Japanese females with epilepsy.
Epilepsy research - 1 Mar 2012
Higurashi Norimichi, Shi Xiuyu, Yasumoto Sawa, Oguni Hirokazu, Sakauchi Masako, Itomi Kazuya, Miyamoto Akie, Shiraishi Hideaki, Kato Takeo, Makita Yoshio, Hirose Shinichi
Abstract excerpt
PURPOSE: To determine the significance of PCDH19 mutations in Japanese females with epilepsy and to delineate their phenotypes. METHODS: PCDH19 sequencing analysis was performed in 116 females with various epilepsies, including 97 with Dravet syndrome (83.6%). They were referred for SCN1A analysis, and 52 carried SCN1A mutations. RESULTS: Seven heterozygous mutations in exon 1 were identified in 7 patients...
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