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):

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• Epilepsy 

• Intellectual disability/developmental delay

• Hypotonia

• Autism

• Cortical-visual impairment

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Publications:

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Expansion of the Mutation and Phenotype Spectrum of the GABRA2-related developmental and epileptic encephalopathy78 | Research Square

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GABRA2-related encephalopathy: Identification of two phenotypes with distinctive electroclinical features - PubMed

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A novel de novo GABRA2 gene missense variant causing developmental epileptic encephalopathy in a Chinese patient - Yang - 2025 - Annals of Clinical and Translational Neurology - Wiley Online Library

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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