Association of ultra-rare coding variants with genetic generalized epilepsy: A case-control whole exome sequencing study.

Mahmoud E Koko Joshua E Motelow Kate E Stanley Dheeraj Reddy Bobbili Ryan S Dhindsa Patrick Maynull nullnull nullnull nullnull nullnull null

Published in: Epilepsia (2022)

URVs in GABRG2 are likely an important risk factor for familial GGE. The association of gene sets of GABAergic signaling with familial GGE is more prominent than with sporadic GGE.

Keyphrases

copy number
case control
genome wide
early onset
dna methylation
gene expression