Associated Papers
Second occurrence of the PAK3-R67C variation and multiscale analysis of the corresponding knock-in mice reveal novel phenotypic features and functional synaptic defects.
Dobrigna M et al.
Neurobiology of Disease, 2025
PAK3 pathogenic variant associated with sleep-related hypermotor epilepsy in a family with parental mosaicism.
Gambardella A et al.
Epilepsia Open, 2025
Clinical and Molecular Aspects of the Neurodevelopmental Disorder Associated with PAK3 Perturbation.
Pascolini G et al.
Journal of Molecular Neuroscience : Mn, 2021
PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration.
Duarte K et al.
Neurobiology of Disease, 2020
Novel PAK3 gene missense variant associated with two Chinese siblings with intellectual disability: a case report.
Qian Y et al.
Bmc Medical Genetics, 2020
A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature.
Iida A et al.
Cold Spring Harbor Molecular Case Studies, 2019
31444167 (PubMed )
Supplement: supp_mcs.a003988_Supplemental_Table_3.xlsx › supplement
Improvement of Self-Injury With Dopamine and Serotonin Replacement Therapy in a Patient With a Hemizygous PAK3 Mutation: A New Therapeutic Strategy for Neuropsychiatric Features of an Intellectual Disability Syndrome.
Horvath GA et al.
Journal of Child Neurology, 2018
A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins.
Hertecant J et al.
European Journal of Medical Genetics, 2017
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.
Magini P et al.
Human Molecular Genetics, 2014
A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features.
Rejeb I et al.
European Journal of Human Genetics : Ejhg, 2008
PAK3 related mental disability: further characterization of the phenotype.
Peippo M et al.
American Journal of Medical Genetics. Part A, 2007
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