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GABRA2
Parent support group: https://www.facebook.com/groups/1510484273059597
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
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Intellectual disability/developmental delay
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Hypotonia
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Autism
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Cortical-visual impairment
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Publications:
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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
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