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
Clinical and Molecular Characterization of Three Novel ARHGEF9 Mutations in Patients with Developmental Delay and Epilepsy.
Yao R et al.
Journal of Molecular Neuroscience : Mn, 2020
The phenotypic spectrum of ARHGEF9 includes intellectual disability, focal epilepsy and febrile seizures.
Klein KM et al.
Journal of Neurology, 2017
ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation.
Alber M et al.
Neurology. Genetics, 2017
Xq11.1-11.2 deletion involving ARHGEF9 in a girl with autism spectrum disorder.
Bhat G et al.
European Journal of Medical Genetics, 2016
Lipid binding defects and perturbed synaptogenic activity of a Collybistin R290H mutant that causes epilepsy and intellectual disability.
Papadopoulos T et al.
The Journal of Biological Chemistry, 2015
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