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

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 patien...

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Veröffentlicht in:	Molecular psychiatry 2022-03, Vol.27 (3), p.1729
Hauptverfasser:	Hines, Dustin J, Contreras, April, Garcia, Betsua, Barker, Jeffrey S, Boren, Austin J, Moufawad El Achkar, Christelle, Moss, Stephen J, Hines, Rochelle M
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals gamma-Aminobutyric Acid - genetics gamma-Aminobutyric Acid - metabolism Humans Intellectual Disability - genetics Mice Mutation Receptors, GABA-A - genetics Receptors, GABA-A - metabolism Rho Guanine Nucleotide Exchange Factors - genetics Rho Guanine Nucleotide Exchange Factors - metabolism Syndrome
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