Associated Papers
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
36315135 (PubMed )
Supplement: jamaneurol-e223651-s001.pdf
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
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
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