Article
Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis.
Brain & development - 1 Jun 2013
Ishii Atsushi, Yasumoto Sawa, Ihara Yukiko, Inoue Takahito, Fujita Takako, Nakamura Noriko, Ohfu Masaharu, Yamashita Yushiro, Takatsuka Hideo, Taga Toshiaki, Miyata Rie, Ito Masahiro, Tsuchiya Hiroshi, Matsuoka Taro, Kitao Tetsuya, Murakami Kiyotaka, Lee Wang-Tso, Kaneko Sunao, Hirose Shinichi
Abstract excerpt
PURPOSE: PRRT2 mutations were recently identified in benign familial infantile epilepsy (BFIE) and infantile convulsions with paroxysmal choreoathetosis (ICCA) but no abnormalities have so far been identified in their phenotypically similar seizure disorder of benign convulsions with mild gastroenteritis (CwG), while mutations in KCNQ2 and KCNQ3 have been recognized in benign familial neonatal epilepsy (BFNE)....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.