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
A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children.
Scorrano G et al.
Pediatric Neurology, 2023
The molecular basis of p21-activated kinase-associated neurodevelopmental disorders: From genotype to phenotype.
Dobrigna M et al.
Frontiers in Neuroscience, 2023
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.
Schobers G et al.
Genome Medicine, 2022
35710456 (PubMed )
Supplement: 13073_2022_1069_MOESM1_ESM.xlsx › Table_S1
De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures.
Horn S et al.
Brain : a Journal of Neurology, 2019
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