A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype
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DOI: 10.1111/epi.17188
Abstract: Variants in γ‐aminobutyric acid A (GABAA) receptor genes cause different forms of epilepsy and neurodevelopmental disorders. To date, GABRA4, encoding the α4‐subunit, has not been associated with a monogenic condition. However, preclinical evidence points toward… read more here.
Keywords: gabra4; function; variant gabra4; missense variant ... See more keywords