top of page

GABRA2

  • Facebook

Symptoms which have been reported by some individuals or publications associated with this gene (some individuals may experience more than one, or none of these symptoms):

​

  • Epilepsy 

  • Intellectual disability/developmental delay

  • Hypotonia

  • Autism

  • Cortical-visual impairment

​

 

Publications:

​

Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures

 

De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy

bottom of page