Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutation.

Abstract

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].

• Authors: Tsukasa Ohashi, Noriyuki Akasaka, Yu Kobayashi, Shinichi Magara, Hideshi Kawashima, Naomichi Matsumoto, Hirotomo Saitsu, Jun Tohyama
• Journal: Epileptic disorders : international epilepsy journal with videotape (Epileptic Disord) Vol. 16 Issue 2 Pg. 208-12 (Jun 2014) ISSN: 1294-9361 [Print] United States
• PMID: 24776920 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• NAV1.1 Voltage-Gated Sodium Channel
• SCN1A protein, human

Topics

• Atrophy
• Brain (pathology)
• Developmental Disabilities (complications)
• Dyskinesias (physiopathology)
• Epilepsy (complications, genetics, pathology)
• Female
• Humans
• Hyperkinesis (complications, genetics, pathology)
• Infant
• Infant, Newborn
• Magnetic Resonance Imaging
• Mutation (genetics, physiology)
• NAV1.1 Voltage-Gated Sodium Channel (genetics)
• Status Epilepticus (complications)
• Stereotyped Behavior (physiology)