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GABRA2

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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

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