Associated Papers
PAK1 (p21-Activated Kinase 1) and Its Role in Neurodevelopmental Disorders-New Case Report and a Comprehensive Review.
Blek N et al.
International Journal of Molecular Sciences, 2025
PAK1 c.1409 T > a (p. Leu470Gln) de novo variant affects the protein kinase domain, leading to epilepsy, macrocephaly, spastic quadriplegia, and hydrocephalus: Case report and review of the literature.
Corriveau ML et al.
American Journal of Medical Genetics. Part A, 2023
A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizures.
Zhuang J et al.
Bmc Medical Genomics, 2023
The molecular basis of p21-activated kinase-associated neurodevelopmental disorders: From genotype to phenotype.
Dobrigna M et al.
Frontiers in Neuroscience, 2023
Systems Biology Approaches Reveal Potential Phenotype-Modifier Genes in Neurofibromatosis Type 1.
Woycinck Kowalski T et al.
Cancers, 2020
A novel PAK1 variant causative of neurodevelopmental disorder with postnatal macrocephaly.
Ohori S et al.
Journal of Human Genetics, 2020
De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures.
Horn S et al.
Brain : a Journal of Neurology, 2019
Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder.
Harms FL et al.
American Journal of Human Genetics, 2018
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