Login / Signup

Variants in CHRNB2 and CHRNA4 Identified in Patients with Insular Epilepsy.

Maxime Cadieux-DionSimone MeneghiniChiara VillaDènahin Hinnoutondji ToffaRonny WickstromAlain BouthillierUlrika SandvikBengt GustavssonIsmail MohamedPatrick CossetteRomina CombiAndrea BecchettiDang Khoa Nguyen
Published in: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques (2020)
This study suggests that variants in CHRNB2 and CHRNA4, initially linked to autosomal dominant nocturnal frontal lobe epilepsy, are also found in patients with predominantly sleep-related insular epilepsy. Although the reported variants should be considered of unknown clinical significance for the moment, identification of additional similar cases and further functional studies could eventually strengthen this association.
Keyphrases
  • copy number
  • sleep quality
  • blood pressure
  • obstructive sleep apnea
  • physical activity
  • working memory
  • temporal lobe epilepsy
  • gene expression
  • dna methylation
  • drug induced