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

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

doi:10.1038/s41431-024-01600-3

Key Points

De novo variants in GABRA4 are linked to an emerging neurological phenotype that features persistent developmental delay along with diverse behavioral abnormalities.
Analysis indicates 9 out of 19 genes encoding GABA subunits carry disease links, emphasizing a clear connection to seizure onset and intractable epilepsy presentations.
Genetic evaluation suggests GABRA4 alterations disrupt inhibitory GABA neurotransmission, highlighting an expanded clinical spectrum for targeted molecular diagnostics.

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Implication

Genetic study reports de novo variants in GABRA4 in affected individuals, highlighting associations with developmental delay, behavioral abnormalities, and epilepsy.

Abstract

Nine out of 19 genes encoding GABA

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Sajan et al. (2024) studied this question.

synapsesocial.com/papers/68e70b24b6db6435876845b0 https://doi.org/10.1038/s41431-024-01600-3

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

Key Points

No abstract yet

Implication

Abstract

Discussion

Cite This Study

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

Key Points

No abstract yet

Implication

Abstract

Discussion

Cite This Study

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