Associated Papers
The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse Model.
Rawlins LE et al.
Annals of Neurology, 2026
Kaptin-Actin Binding Protein (KPTN)-Related Disorder: A Case Report of Two Siblings Harboring a Novel KPTN Mutation.
Biswas I et al.
Cureus, 2025
Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes.
Levitin MO et al.
Brain : a Journal of Neurology, 2023
Impact of parental relatedness on reproductive outcomes among the Old Order Amish of Lancaster County.
Lynch MT et al.
American Journal of Medical Genetics. Part A, 2022
Case report: KPTN gene-related syndrome associated with a spectrum of neurodevelopmental anomalies including severe epilepsy.
Horn S et al.
Frontiers in Neurology, 2022
Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing.
Thiffault I et al.
Cold Spring Harbor Molecular Case Studies, 2020
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
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
31028937 (PubMed )
Supplement: mmc1.xlsx › SuppTable1_VariantsPanel
Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures.
Baple EL et al.
American Journal of Human Genetics, 2014
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