Associated Papers
The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse Model.
Rawlins LE et al.
Annals of Neurology, 2026
Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes.
Levitin MO et al.
Brain : a Journal of Neurology, 2023
37437211 (PubMed )
Supplement: awad231_supplementary_data.zip › brain-2022-02095-File010.xlsx › OCF_KRD
Case report: KPTN gene-related syndrome associated with a spectrum of neurodevelopmental anomalies including severe epilepsy.
Horn S et al.
Frontiers in Neurology, 2022
KPTN gene homozygous variant-related syndrome in the northeast of Brazil: A case report.
Lucena PH et al.
American Journal of Medical Genetics. Part A, 2020
The Diagnostic Utility of Single Long Contiguous Stretches of Homozygosity in Patients without Parental Consanguinity.
Pajusalu S et al.
Molecular Syndromology, 2015
Novel homozygous mutation in KPTN gene causing a familial intellectual disability-macrocephaly syndrome.
Pajusalu S et al.
American Journal of Medical Genetics. Part A, 2015
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