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Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.
Mitsuhiro Kato
1 ,
Takanori Yamagata ,
Masaya Kubota ,
Hiroshi Arai ,
Sumimasa Yamashita ,
Taku Nakagawa ,
Takanari Fujii ,
Kenji Sugai ,
Kaoru Imai ,
Tami Uster ,
David Chitayat ,
Shelly Weiss ,
Hirofumi Kashii ,
Ryosuke Kusano ,
Ayumi Matsumoto ,
Kazuyuki Nakamura ,
Yoshinobu Oyazato ,
Mari Maeno ,
Kiyomi Nishiyama ,
Hirofumi Kodera ,
Mitsuko Nakashima ,
Yoshinori Tsurusaki ,
Noriko Miyake ,
Kayoko Saito ,
Kiyoshi Hayasaka ,
Naomichi Matsumoto ,
Hirotomo Saitsu
Jul 2013
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Abstract
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.