Welcome to the KPTN Alliance.

The KPTN Alliance is a global community for sharing information about KPTN genetic mutations and the resulting health impacts. We help improve the lives of those diagnosed with KPTN mutations by working with:

  • Patients and Families to educate and provide community connections
  • Researchers to understand the latest developments and support further study
  • Medical professionals to consolidate information about this rare condition and support effective treatment

Presentation and diagnoses:  KPTN patients typically present with a wide range of initial diagnoses that may include epilepsy, autism, intellectual disability, developmental delay, hypotonia, macrocephaly, and/or anxiety. A genetic test can be used to diagnose mutation to the KPTN gene. 

Treatment and research:  Current treatments address specific conditions such as epilepsy or anxiety. We are optimistic that better-tailored interventions may be identified via further research into the KPTN genetic mutation, the KPTN protein, the KICSTOR complex, and the mTOR pathway.

Latest from the Blog

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 at this link, including quotes from KPTN alliance. Full UMD announcement at this link.UMD Description of the KPTN research at this…

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.…