Article
Dramatic response after functional hemispherectomy in a patient with epileptic encephalopathy carrying a de novo COL4A1 mutation.
Brain & development - 1 Apr 2017
Hino-Fukuyo Naomi, Kikuchi Atsuo, Iwasaki Masaki, Sato Yuko, Kubota Yuki, Kobayashi Tomoko, Nakayama Tojo, Haginoya Kazuhiro, Arai-Ichinoi Natsuko, Niihori Tetsuya, Sato Ryo, Suzuki Tasuku, Kudo Hiroki, Funayama Ryo, Nakayama Keiko, Aoki Yoko, Kure Shigeo
Abstract excerpt
We describe the first case of a successful functional hemispherectomy in a patient with epileptic encephalopathy and a de novo collagen type IV alpha 1 (COL4A1) mutation. A 4-year-old girl was COL4A1 mutation-positive and suffered from drug-resistant epilepsy, hemiplegia, and developmental delay. Magnetic resonance imaging detected no porencephaly, and she had no cataract or renal abnormality. Following a...
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