Article
Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.
Epilepsia - 1 Jul 2013
Kato Mitsuhiro, Yamagata Takanori, Kubota Masaya, Arai Hiroshi, Yamashita Sumimasa, Nakagawa Taku, Fujii Takanari, Sugai Kenji, Imai Kaoru, Uster Tami, Chitayat David, Weiss Shelly, Kashii Hirofumi, Kusano Ryosuke, Matsumoto Ayumi, Nakamura Kazuyuki, Oyazato Yoshinobu, Maeno Mari, Nishiyama Kiyomi, Kodera Hirofumi, Nakashima Mitsuko, Tsurusaki Yoshinori, Miyake Noriko, Saito Kayoko, Hayasaka Kiyoshi, Matsumoto Naomichi, Saitsu Hirotomo
Abstract excerpt
PURPOSE: KCNQ2 mutations have been found in patients with benign familial neonatal seizures, myokymia, or early onset epileptic encephalopathy (EOEE). In this study, we aimed to delineate the clinical spectrum of EOEE associated with KCNQ2 mutation. METHODS: A total of 239 patients with EOEE, including 51 cases with Ohtahara syndrome and 104 cases with West syndrome, were analyzed by high-resolution melting (HRM)...
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