Gabra2 is a genetic modifier of Scn8a encephalopathy in the mouse.

Wenxi YuSophie F HillJames G Xenakis Fernando Pardo-Manuel de VillenaJacy L WagnonMiriam H Meisler

Published in: Epilepsia (2020)

These studies demonstrate that the SJL/J strain carries multiple modifiers with protective effects against seizures induced by gain-of-function mutations in Scn8a. Homozygosity for the hypomorphic variant of Gabra2 in strain C57BL/6J is associated with early seizure onset and short life span. GABRA2 is a potential therapeutic target for SCN8A encephalopathy.

Keyphrases

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