Associated Papers
A novel de novo hemizygous ARHGEF9 mutation associated with severe intellectual disability and epilepsy: a case report.
Qiu T et al.
The Journal of International Medical Research, 2021
ARHGEF9 mutations in epileptic encephalopathy/intellectual disability: toward understanding the mechanism underlying phenotypic variation.
Wang JY et al.
Neurogenetics, 2018
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
Novel Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotypes.
Mastrangelo M
Pediatric Neurology, 2015
Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism.
Long P et al.
Frontiers in Molecular Neuroscience, 2015
Genetics, molecular biology, and phenotypes of x-linked epilepsy.
Deng H et al.
Molecular Neurobiology, 2014
Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus.
Holman SK et al.
Clinical Genetics, 2013
Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy.
Shimojima K et al.
Journal of Human Genetics, 2011
Select a paper to view details