Associated Papers
PAK3 pathogenic variant associated with sleep-related hypermotor epilepsy in a family with parental mosaicism.
Gambardella A et al.
Epilepsia Open, 2025
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › Table_S2_DBASS5_index
Clinical and Molecular Aspects of the Neurodevelopmental Disorder Associated with PAK3 Perturbation.
Pascolini G et al.
Journal of Molecular Neuroscience : Mn, 2021
Transposon clusters as substrates for aberrant splice-site activation.
Alvarez MEV et al.
Rna Biology, 2021
32965162 (PubMed )
Supplement: KRNB_A_1805909_SM0818.zip › Supplementary_information › Supplementary_Table_S1.pdf
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 novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features.
Rejeb I et al.
European Journal of Human Genetics : Ejhg, 2008
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