Associated Papers
ARHGEF9 gene variant leads to developmental and epileptic encephalopathy: Genotypic phenotype analysis and treatment exploration.
Yang H et al.
Molecular Genetics & Genomic Medicine, 2022
Human ARHGEF9 intellectual disability syndrome is phenocopied by a mutation that disrupts collybistin binding to the GABAA receptor α2 subunit.
Hines DJ et al.
Molecular Psychiatry, 2022
Loss-of-function variants in ARHGEF9 are associated with an X-linked intellectual disability dominant disorder.
Ghesh L et al.
Human Mutation, 2021
De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females.
Scala M et al.
Neurogenetics, 2021
The phenotypic spectrum of ARHGEF9 includes intellectual disability, focal epilepsy and febrile seizures.
Klein KM et al.
Journal of Neurology, 2017
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