A novel mutation in the sodium channel alpha 1 subunit gene in a child with Dravet syndrome in Turkey

Arslan M., YİŞ U., Caglayan H., Akin R.

NEURAL REGENERATION RESEARCH, cilt.8, sa.10, ss.955-958, 2013 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 8 Sayı: 10
  • Basım Tarihi: 2013
  • Doi Numarası: 10.3969/j.issn.1673-5374.2013.10.011
  • Dergi Adı: NEURAL REGENERATION RESEARCH
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.955-958
  • Anahtar Kelimeler: neural regeneration, clinical practice, Dravet syndrome, sodium channel alpha 1 subunit gene, mutation, child, Turkish, epilepsy, refractory seizures, neuroregeneration, SEVERE MYOCLONIC EPILEPSY, INFANCY
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Dravet syndrome is a rare epileptic encephalopathy characterized by frequent seizures beginning in the first year of life and behavioral disorders. Mutations in the sodium channel alpha 1 subunit gene are the main cause of this disease. We report two patients with refractory seizures and psychomotor retardation in whom the final diagnosis was Dravet syndrome with confirmed mutations in the sodium channel alpha 1 subunit gene. The mutation identified in the second patient was a novel frame shift mutation, which resulted from the deletion of five nucleotides in exon 24.