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Article

Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy

8 Oct 2021

Abstract excerpt

A potential link between GABRD encoding the δ subunit of extrasynaptic GABAA receptors and neurodevelopmental disorders has largely been disregarded due to conflicting conclusions from early studies. However, we identified seven heterozygous missense GABRD variants in 10 patients with neurodevelopmental disorders and generalized epilepsy. One variant occurred in two sibs of healthy parents with presumed somatic...

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PMID: 34633442
DOI: 10.1093/brain/awab391

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