A case of Dravet Syndrome with a newly defined mutation in the SCN1A gene

Creative Commons License

Tuncer G. O., TEBER S., Albayrak P., Kutluk M. G., Deda G.

TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS, cilt.53, sa.4, ss.259-262, 2018 (ESCI) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 53 Sayı: 4
  • Basım Tarihi: 2018
  • Doi Numarası: 10.5152/turkpediatriars.2018.4197
  • Dergi Adı: TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.259-262
  • Anahtar Kelimeler: Dravet Syndrome, epilepsy, SCN1A gene, SEVERE MYOCLONIC EPILEPSY, ALPHA-1 SUBUNIT GENE
  • Ankara Üniversitesi Adresli: Evet

Özet

Dravet syndrome is a catastrophic progressive epileptic syndrome. De novo loss of function mutations on the SCN1A gene coding voltage-gated sodium channels are responsible. Disruption of the triggering of hippocampal GABAergic interneurons is assumed as the cause of fall in the seizure threshold. A ten-year-old boy first presented at age 10 months with febrile-clonic seizures, which began when he was aged 8 months. Electroencephalography was found as normal. Phenobarbital was initiated because of long-lasting seizures. However, his seizures continued and the therapy was replaced with vaiproic acid. On follow-up, different antiepileptics were used, which were stopped due to inefficiency or adverse effects. SCN1A gene analysis was performed and a heterozygous c.4018delC mutation was identified. This new frame-shift mutation resulting from an early stop-codon is thought to be the cause of the disease. Finally, he was prescribed valproic acid and stiripentol. For patients with fever-triggered, treatment-resistant seizures, and delayed psychomotor development, Dravet syndrome should be considered. Genetic diagnosis is important for treatment and follow-up.