Articles with "gabra4 thr300ile" as a keyword



The de novo GABRA4 p.Thr300Ile variant found in a patient with early‐onset intractable epilepsy and neurodevelopmental abnormalities displays gain‐of‐function traits

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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