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Article

Human ARHGEF9 intellectual disability syndrome is phenocopied by a mutation that disrupts collybistin binding to the GABAA receptor α2 subunit.

Molecular psychiatry - 1 Mar 2022

Hines Dustin J, Contreras April, Garcia Betsua, Barker Jeffrey S, Boren Austin J, Moufawad El Achkar Christelle, Moss Stephen J, Hines Rochelle M

Abstract excerpt

Intellectual disability (ID) is a common neurodevelopmental disorder that can arise from genetic mutations ranging from trisomy to single nucleotide polymorphism. Mutations in a growing number of single genes have been identified as causative in ID, including ARHGEF9. Evaluation of 41 ARHGEF9 patient reports shows ubiquitous inclusion of ID, along with other frequently reported symptoms of epilepsy, abnormal...

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Share to gamma-Aminobutyric Acid
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35169261
DOI: 10.1038/s41380-022-01468-z
PMCID: PMC9095487

Genes

ARHGEF9

Provenance

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