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Article

A novel de novo hemizygous ARHGEF9 mutation associated with severe intellectual disability and epilepsy: a case report.

The Journal of international medical research - 1 Nov 2021

Qiu Tong, Dai Qian, Wang Qiu

Abstract excerpt

ARHGEF9 encodes collybistin, a brain-specific guanosine diphosphate-guanosine-5'-triphosphate exchange factor that plays an important role in clustering of gephyrin and γ-aminobutyric acid type A receptors in the postsynaptic membrane. Overwhelming evidence suggests that defects in this protein can cause X-linked intellectual disability, which comprises a series of clinical phenotypes, including autism spectrum...

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Identifiers

PMID: 34851771
DOI: 10.1177/03000605211058372
PMCID: PMC8647271

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