Article
Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures.
PloS one - 1 Jan 2015
Yamamoto Toshiyuki, Shimojima Keiko, Sangu Noriko, Komoike Yuta, Ishii Atsushi, Abe Shinpei, Yamashita Shintaro, Imai Katsumi, Kubota Tetsuo, Fukasawa Tatsuya, Okanishi Tohru, Enoki Hideo, Tanabe Takuya, Saito Akira, Furukawa Toru, Shimizu Toshiaki, Milligan Carol J, Petrou Steven, Heron Sarah E, Dibbens Leanne M, Hirose Shinichi, Okumura Akihisa
Abstract excerpt
Nucleotide alterations in the gene encoding proline-rich transmembrane protein 2 (PRRT2) have been identified in most patients with benign partial epilepsies in infancy (BPEI)/benign familial infantile epilepsy (BFIE). However, not all patients harbor these PRRT2 mutations, indicating the involvement of genes other than PRRT2. In this study, we performed whole exome sequencing analysis for a large family affected...
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