Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutation. Issue 2 (June 2014)

• Record Type: Journal Article
• Authors: Ohashi, Tsukasa; Akasaka, Noriyuki; Kobayashi, Yu; Magara, Shinichi; Kawashima, Hideshi; Matsumoto, Naomichi; Saitsu, Hirotomo; Tohyama, Jun
• Is Part Of: Epileptic disorders. Volume 16:Issue 2(2014:Jun.)
• Page Start: 208
• Page End: 212
• Publication Date: 2014-06
• Subjects: Epilepsy -- Periodicals; 616.853
• DOI: 10.1684/epd.2014.0649
• Languages: English
• ISSNs: 1294-9361

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <p>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 <italic>de novo SCN1A</italic> mutation was identified by whole‐exome sequence analysis. This case demonstrates that <italic>SCN1A</italic> 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 <italic>SCN1A</italic>‐associated epileptic encephalopathy. [<italic>Published with video sequences</italic>]</p> </abstract>