Article
PCDH19-related female-limited epilepsy: further details regarding early clinical features and therapeutic efficacy.
Epilepsy research - 1 Sept 2013
Higurashi Norimichi, Nakamura Mai, Sugai Misaki, Ohfu Masaharu, Sakauchi Masako, Sugawara Yuji, Nakamura Kazuyuki, Kato Mitsuhiro, Usui Daisuke, Mogami Yukiko, Fujiwara Yumi, Ito Tomoshiro, Ikeda Hiroko, Imai Katsumi, Takahashi Yukitoshi, Nukui Megumi, Inoue Takeshi, Okazaki Shin, Kirino Tomoko, Tomonoh Yuko, Inoue Takahito, Takano Kyoko, Shimakawa Shuichi, Hirose Shinichi
Abstract excerpt
Abnormalities in the protocadherin 19 (PCDH19) gene cause early-onset epilepsy exclusively in females. We aimed to explore the genetic and clinical characteristics of PCDH19-related epilepsy by focusing on its early features and treatment efficacy. PCDH19 was analyzed in 159 Japanese female patients with early-onset epilepsy via direct sequencing and multiplex ligation-dependent probe amplification (MLPA)...
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