New Research Alert
On February 16, 2026, a new study was published in the Annals of Neurology that provides the most detailed look yet at KPTN-related disorder (KRD). This study builds on existing KPTN research with the latest findings from the research team: Clinical data from 71 individuals with KRD—including 48 newly identified cases with 15 total variants…
NIH Awards $2.7M for KPTN Research
Congratulations to the teams at the University of Exeter and the University of Maryland on a highly successful grant application for KPTN research. To learn more about the grant, please see the: University of Exeter announcement archived at this link, including quotes from KPTN alliance. Full UMD announcement at this link. UMD Description of the KPTN…
Welcome to the KPTN Alliance Website!
Our small community has grown dramatically over the past few years via email, Facebook, and video calls. The time has come to take the next step, and create a website! This site will be a resource to share information for patients and practitioners, with an introduction to KPTN mutation, research updates, family profiles, and more.…
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