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

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

LANCET NEUROLOGY, cilt.17, sa.8, ss.699-708, 2018 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 17 Sayı: 8
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1016/s1474-4422(18)30215-1
  • Dergi Adı: LANCET NEUROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.699-708
  • Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Hayır

Özet

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.