Associated Papers
Impaired axon initial segment structure and function in a model of ARHGEF9 developmental and epileptic encephalopathy.
Wang W et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
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
Advances in hyperekplexia and other startle syndromes.
Zhan FX et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
Mutation p.R356Q in the Collybistin Phosphoinositide Binding Site Is Associated With Mild Intellectual Disability.
Chiou TT et al.
Frontiers in Molecular Neuroscience, 2019
Developmental seizures and mortality result from reducing GABAA receptor α2-subunit interaction with collybistin.
Hines RM et al.
Nature Communications, 2018
ARHGEF9 mutations in epileptic encephalopathy/intellectual disability: toward understanding the mechanism underlying phenotypic variation.
Wang JY et al.
Neurogenetics, 2018
Impaired Glycine Receptor Trafficking in Neurological Diseases.
Schaefer N et al.
Frontiers in Molecular Neuroscience, 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
Genetics, molecular biology, and phenotypes of x-linked epilepsy.
Deng H et al.
Molecular Neurobiology, 2014
Emerging major synaptic signaling pathways involved in intellectual disability.
Pavlowsky A et al.
Molecular Psychiatry, 2012
Molecular bases and clinical spectrum of early infantile epileptic encephalopathies.
Tavyev Asher YJ et al.
European Journal of Medical Genetics, 2012
Collybistin splice variants differentially interact with gephyrin and Cdc42 to regulate gephyrin clustering at GABAergic synapses.
Tyagarajan SK et al.
Journal of Cell Science, 2011
De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic features.
Lesca G et al.
American Journal of Medical Genetics. Part A, 2011
A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation.
Kalscheuer VM et al.
Human Mutation, 2009
ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal.
Marco EJ et al.
Journal of Medical Genetics, 2008
The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering.
Harvey K et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2004
A novel movement disorder in related male Labrador Retrievers characterized by extreme generalized muscular stiffness.
Vanhaesebrouck AE et al.
Journal of Veterinary Internal Medicine, 0