Article
De novo KCNT1 mutations in early-onset epileptic encephalopathy.
Epilepsia - 1 Sept 2015
Ohba Chihiro, Kato Mitsuhiro, Takahashi Nobuya, Osaka Hitoshi, Shiihara Takashi, Tohyama Jun, Nabatame Shin, Azuma Junji, Fujii Yuji, Hara Munetsugu, Tsurusawa Reimi, Inoue Takahito, Ogata Reina, Watanabe Yoriko, Togashi Noriko, Kodera Hirofumi, Nakashima Mitsuko, Tsurusaki Yoshinori, Miyake Noriko, Tanaka Fumiaki, Saitsu Hirotomo, Matsumoto Naomichi
Abstract excerpt
KCNT1 mutations have been found in epilepsy of infancy with migrating focal seizures (EIMFS; also known as migrating partial seizures in infancy), autosomal dominant nocturnal frontal lobe epilepsy, and other types of early onset epileptic encephalopathies (EOEEs). We performed KCNT1-targeted next-generation sequencing (207 samples) and/or whole-exome sequencing (229 samples) in a total of 362 patients with...
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