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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.

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