Premium
Acute encephalopathy with a truncation mutation in the SCN1A gene: A case report
Author(s) -
Takayanagi Masaru,
Haginoya Kazuhiro,
Umehara Naoki,
Kitamura Taro,
Numata Yurika,
Wakusawa Keisuke,
HinoFukuyo Naomi,
Mazaki Emi,
Yamakawa Kazuhiro,
Ohura Toshihiro,
Ohtake Masatoshi
Publication year - 2010
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1111/j.1528-1167.2010.02600.x
Subject(s) - status epilepticus , encephalopathy , dravet syndrome , epilepsy , medicine , white matter , pathophysiology , myoclonic epilepsy , atrophy , pediatrics , anesthesia , magnetic resonance imaging , cardiology , psychiatry , radiology
Summary 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 atrophy in the chronic phase. Mutations were detected in the neuronal voltage‐gated sodium channel alpha subunit type 1 ( SCN1A ) gene. SCN1A sequence analysis revealed a truncation mutation: ex1‐c.126Adel (D43fs). Our patient was likely afflicted by severe myoclonic epilepsy in infancy, and the fourth episode of status epilepticus was similar to acute encephalopathy. This report provides further insight into the molecular pathophysiology underlying acute encephalopathy.