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
The de novo GABRA4 p.Thr300Ile variant found in a patient with early‐onset intractable epilepsy and neurodevelopmental abnormalities displays gain‐of‐function traits
Sign Up to like & getrecommendations! Published in 2022 at "Epilepsia"
DOI: 10.1111/epi.17358
Abstract: To the Editors: We were encouraged to read the recent publication by Vogel et al.1 in Epilepsia providing the first association between a de novo missense variant in GABRA4 and a neurodevelopmental disorder with earlyonset… read more here.
Keywords: gabra4; thr300ile variant; variant; subunit ... See more keywords