Article
KCNT1-positive epilepsy of infancy with migrating focal seizures successfully treated with nonnarcotic antitussive drugs after treatment failure with quinidine: A case report.
Brain & development - 1 Sept 2020
Takase Chihiro, Shirai Kentaro, Matsumura Yu, Watanabe Tomohiro, Watanabe Akimitsu, Hirasawa-Inoue Ayaka, Mizuguchi Takeshi, Matsumoto Naomichi, Sugai Kenji, Hayashi Masaharu
Abstract excerpt
BACKGROUND: Epilepsy of infancy with migrating focal seizures (EIMFS) is one of the early-onset epileptic encephalopathies resistant to antiepileptic drugs, therefore carrying an extremely poor neurodevelopmental outcome. KCNT1, encoding for a sodium-activated potassium channel (KCa4.1 channel), has recently been reported as the major gene responsible for EIMFS. Since gain of function is the only type of mutation...
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