Rare coding variants in genes encoding GABA(A) receptors in genetic generalised epilepsies: an exome-based case-control study

Creative Commons License

May P., Girard S., Harrer M., Bobbili D. R., Schubert J., Wolking S., ...More

LANCET NEUROLOGY, vol.17, no.8, pp.699-708, 2018 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 17 Issue: 8
  • Publication Date: 2018
  • Doi Number: 10.1016/s1474-4422(18)30215-1
  • Journal Name: LANCET NEUROLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.699-708
  • Acibadem Mehmet Ali Aydinlar University Affiliated: No

Abstract

Background Genetic generalised epilepsy is the most common type of inherited epilepsy. Despite a high concordance rate of 80% in monozygotic twins, the genetic background is still poorly understood. We aimed to investigate the burden of rare genetic variants in genetic generalised epilepsy.