SCN1A gene sequencing in 46 Turkish epilepsy patients disclosed 12 novel mutations

Usluer S., Salar S., ARSLAN M., Yis U., KARA B., Tekturk P., ...Daha Fazla

SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, cilt.39, ss.34-43, 2016 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 39
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1016/j.seizure.2016.05.008
  • Dergi Adı: SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.34-43
  • Anahtar Kelimeler: Dravet syndrome, Epileptic encephalopathy, GEFS, SCN1A mutation, SUDDEN UNEXPECTED DEATH, SEVERE MYOCLONIC EPILEPSY, FEBRILE SEIZURES PLUS, GENERALIZED EPILEPSY, DRAVET SYNDROME, PREVALENCE, GENOTYPE, SPECTRUM
  • İstanbul Üniversitesi Adresli: Evet

Özet

Purpose: The SCN1A gene is one of the most commonly mutated human epilepsy genes associated with a spectrum of phenotypes with variable degrees of severity. Despite over 1200 distinct mutations reported, it is still hard to draw clear genotype phenotype relationships, since genetic and environmental modifiers contribute to the development of a particular disease caused by an SCN1A mutation. We aimed to initiate mutational screening of the SCN1A gene in Turkey and advance further our understanding of the relationship between the SCN1A sequence alterations and disease phenotypes such as GEFS+, DS and related epileptic encephalopathies.