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
Novel PAK1 variants related to a variable phenotypic spectrum ranging from mild developmental delay to infantile epileptic spasms syndrome.
Wang T et al.
Seizure, 2025
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S6
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
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