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Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutation
Author(s) -
Ohashi Tsukasa,
Akasaka Noriyuki,
Kobayashi Yu,
Magara Shinichi,
Kawashima Hideshi,
Matsumoto Naomichi,
Saitsu Hirotomo,
Tohyama Jun
Publication year - 2014
Publication title -
epileptic disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.673
H-Index - 53
eISSN - 1950-6945
pISSN - 1294-9361
DOI - 10.1684/epd.2014.0649
Subject(s) - status epilepticus , movement disorders , pediatrics , epilepsy , medicine , intellectual disability , encephalopathy , neurology , neuroscience , mutation , psychology , psychiatry , pathology , genetics , biology , disease , gene
We report a female patient who presented with intractable epileptic seizures, profound developmental delay since early infancy, and hyperkinetic movements with hand stereotypies. The patient initially developed focal seizures with multiple foci at 3 months of age. Thereafter, the seizures evolved to frequent episodes of hyperthermia‐induced status epilepticus. A novel de novo SCN1A mutation was identified by whole‐exome sequence analysis. This case demonstrates that SCN1A mutations may cause movement disorders as an atypical phenotype and the case history of this patient may expand our understanding of the clinical spectrum of SCN1A ‐associated epileptic encephalopathy. [ Published with video sequences ]