De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy.

doi:10.1038/s41431-024-01600-3

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Article

De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy.

European journal of human genetics : EJHG - 1 Aug 2024

Sajan Samin A, Gradisch Ralph, Vogel Florian D, Coffey Alison J, Salyakina Daria, Soler Diana, Jayakar Parul, Jayakar Anuj, Bianconi Simona E, Cooper Annina H, Liu Shuxi, William Nancy, Benkel-Herrenbrück Ira, Maiwald Robert, Heller Corina, Biskup Saskia, Leiz Steffen, Westphal Dominik S, Wagner Matias, Clarke Amy, Stockner Thomas, Ernst Margot, Kesari Akanchha, Krenn Martin

Abstract excerpt

Nine out of 19 genes encoding GABAA receptor subunits have been linked to monogenic syndromes characterized by seizures and developmental disorders. Previously, we reported the de novo variant p.(Thr300Ile) in GABRA4 in a patient with epilepsy and neurodevelopmental abnormalities. However, no new cases have been reported since then. Through an international collaboration, we collected molecular and phenotype data...

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Identifiers

PMID: 38565639
DOI: 10.1038/s41431-024-01600-3
PMCID: PMC11291759

Genes

GABRA4

Variants

Provenance

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