John Libbey Eurotext

Epileptic Disorders

The Educational Journal of the International League Against Epilepsy

Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutation Volume 16, numéro 2, June 2014

Vidéos

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

Illustrations

  • Figure 1

Tableaux

Auteurs
1 Department of Child Neurology, Nishi-Niigata Chuo National Hospital, Niigata
2 Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama
3 Niigata University Medical and Dental Hospital, Niigata, Japan
* Correspondence: Jun Tohyama Department of Child Neurology, Epilepsy Center, Nishi-Niigata Chuo National Hospital, 1-14-1 Masago, Nishi-ku, Niigata 950-2085, Japan
  • Mots-clés : epileptic encephalopathy, SCN1A, chorea, ballismus, hyperkinetic movement, hand stereotypies
  • DOI : 10.1684/epd.2014.0649
  • Page(s) : 208-12
  • Année de parution : 2014

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]