> For the complete documentation index, see [llms.txt](https://www.prrt2.org/llms.txt). Markdown versions of documentation pages are available by appending `.md` to page URLs; this page is available as [Markdown](https://www.prrt2.org/readme.md).

# Home

PRRT2 gene mutation — paroxysmal dyskinesia, seizures, epilepsy, dystonia, and dysphonia. PRRT2 Foundation: the only knowledge base for the full PRRT2 spectrum.

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**A PRRT2 mutation can cause sudden attacks of abnormal movement (paroxysmal dyskinesia), infant seizures, epilepsy, dystonia, and migraine. Some children outgrow the seizures; the gene does not go away — and many people go years before anyone thinks to test for it.** This is the only knowledge base built for the full PRRT2 spectrum: real science in plain language, written by people who live with this gene.

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#### 🔓 Pre-Registry Now Open

<figure><img src="https://2194986369-files.gitbook.io/~/files/v0/b/gitbook-x-prod.appspot.com/o/spaces%2FpTf0GrIH4kwsrsSb264g%2Fuploads%2Fgit-blob-8887a03f6118751ce03972ac747646e15593a825%2Fconfirmed-mutation-banner.svg?alt=media" alt="Confirmed PRRT2 mutation? You&#x27;ve found your people — become a member of the PRRT2 Foundation."><figcaption></figcaption></figure>

**Have a confirmed PRRT2 diagnosis?** Pre-registering takes a few minutes and makes you a member of the Foundation. **Your name is never shared — only de-identified data.**

This is Step 1. It reserves your place in the full clinical registry now in development, and every person counted makes this community harder to overlook when research funding, partnerships, and clinical trials are decided. Members hear about them first.

<a href="https://intake.prrt2.org" class="button primary">✋ Get Counted — Pre-Register</a>

*Not diagnosed yet? Start with* [*how to get tested*](/diagnosis-and-genetic-testing/how-to-get-tested.md) *— then come back.*

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#### 🧭 Start Here

<table data-view="cards"><thead><tr><th></th><th></th><th data-hidden data-card-target data-type="content-ref"></th></tr></thead><tbody><tr><td><strong>📖 PRRT2 Gene Overview</strong></td><td>What the gene does, why it misfires, and what that actually means — in plain language.</td><td><a href="/prrt2-gene-overview/introduction.md">Introduction to PRRT2</a></td></tr><tr><td><strong>🧬 Associated Conditions</strong></td><td>PKD, BFIS, PED, dystonia, migraine, epilepsy — the full spectrum, explained.</td><td><a href="/associated-conditions/prrt2-spectrum.md">The PRRT2 Spectrum</a></td></tr><tr><td><strong>🔬 Diagnosis &#x26; Genetic Testing</strong></td><td>How to get tested, what your results mean, and what to ask your doctor.</td><td><a href="/diagnosis-and-genetic-testing/how-to-get-tested.md">How to Get Tested</a></td></tr></tbody></table>

**Beyond the textbook:** dysphonia, tics, and the symptoms that get dismissed because they aren't in the standard case description — [we document the wider spectrum too](/exploring-the-wider-spectrum/wider-spectrum.md), where the science is still being written.

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#### 🏛️ The PRRT2 Foundation

> **Our Mission:** The PRRT2 Foundation exists to do what a diagnosis alone cannot — explain this condition completely, connect the people living with it, forge the partnerships that accelerate research and expand access to testing, and build the technology that gives every patient a clinical voice.

<table data-view="cards"><thead><tr><th></th><th></th><th data-hidden data-card-target data-type="content-ref"></th></tr></thead><tbody><tr><td><strong>📖 About — The Reality of PRRT2</strong></td><td>The story behind this site, who built it, why it exists, and what drives the Foundation's work.</td><td><a href="/about-the-foundation/about.md">About — The Reality of PRRT2</a></td></tr><tr><td><strong>✍️ Expressions</strong></td><td>Our own voice — essays and lived-experience pieces, distinct from the clinical reference pages.</td><td><a href="https://www.prrt2.org/expressions">https://www.prrt2.org/expressions</a></td></tr><tr><td><strong>📬 Newsletter</strong></td><td>Foundation news, research updates, and community milestones, straight to your inbox.</td><td><a href="https://newsletter.prrt2.org">https://newsletter.prrt2.org</a></td></tr></tbody></table>

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#### 💛 Support Our Work

[![Donate Now — Support the Foundation](https://2194986369-files.gitbook.io/~/files/v0/b/gitbook-x-prod.appspot.com/o/spaces%2FpTf0GrIH4kwsrsSb264g%2Fuploads%2Fgit-blob-9a87a60ecae5e6f154c155d826899ee468e81c7f%2Fdonate_banner.png?alt=media)](https://donate.prrt2.org)

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#### 🤝 You're Not Alone

Living with a PRRT2 mutation isn't only a scientific problem — it's the misdiagnoses, the unanswered questions, and the symptoms nobody could explain. You don't have to navigate it alone.

🔒 **The Community** — our private group, where patients and families ask questions, share what they're going through, and connect with others who understand what this condition actually does to a life.

{% embed url="<http://facebook.com/groups/prrt2>" %}

🏛️ **The Foundation** — our official charity page, for announcements, research updates, and Foundation news.

{% embed url="<http://facebook.com/prrt2>" %}

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**Can't find what you're looking for?** On a phone, tap ☰ in the top-left corner to browse every section. The search bar above has AI built in — or click below to ask directly.

<button type="button" class="button primary" data-action="ask" data-icon="gitbook-assistant">Ask a question...</button>

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