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
Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy.
Zou H et al.
Frontiers in Genetics, 2024
39906551 (PubMed )
Supplement: Table1.xlsx › Table_S2
The molecular basis of p21-activated kinase-associated neurodevelopmental disorders: From genotype to phenotype.
Dobrigna M et al.
Frontiers in Neuroscience, 2023
A novel PAK1 variant causative of neurodevelopmental disorder with postnatal macrocephaly.
Ohori S et al.
Journal of Human Genetics, 2020
p21 protein-activated kinase 1 is associated with severe regressive autism, and epilepsy.
Kernohan KD et al.
Clinical Genetics, 2019
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