Article
Acute encephalopathy with a truncation mutation in the SCN1A gene: a case report.
Epilepsia - 1 Sept 2010
Takayanagi Masaru, Haginoya Kazuhiro, Umehara Naoki, Kitamura Taro, Numata Yurika, Wakusawa Keisuke, Hino-Fukuyo Naomi, Mazaki Emi, Yamakawa Kazuhiro, Ohura Toshihiro, Ohtake Masatoshi
Abstract excerpt
A girl aged 1 year 9 months had recurrent episodes of febrile status epilepticus. She recovered completely after the first three episodes. However, at 9 months she developed acute encephalopathy resulting in severe neurologic sequelae. Diffusion-weighted magnetic resonance imaging revealed diffuse high-intensity signals over the cortex and subcortical white matter in the acute phase and severe diffuse cerebral...
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