> 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/prrt2-gene-overview/introduction.md).

# Introduction to PRRT2

What is the PRRT2 gene? Mutations cause paroxysmal dyskinesia, infantile seizures, dystonia, and more. How sodium channel dysfunction drives every PRRT2 condition.

## What is PRRT2?

PRRT2 is a gene — one specific instruction written into human DNA. Its full name is *proline-rich transmembrane protein 2*, and it is located on chromosome 16.

Every gene's job is to tell the body how to build something. PRRT2 carries the instructions for a protein, also called PRRT2, that is found almost entirely in the **brain and spinal cord**. There, it works at the tiny junctions where nerve cells connect and communicate.

## What the PRRT2 protein does

Nerve cells, or neurons, constantly send signals to one another. That signaling has to be precisely controlled — quick enough to function, but not so unrestrained that it runs away with itself.

The PRRT2 protein acts as a kind of **brake**. Sitting at the connections between neurons, it helps hold two things in check:

* the release of the chemical messengers that neurons use to "talk" to each other, and
* the electrical excitability of the neurons themselves.

It does this partly by interacting with the cell's neurotransmitter-release machinery, and partly by helping to settle the sodium channels that drive a neuron's electrical activity. When PRRT2 is working normally, the result is steady, measured signaling.

## What happens when PRRT2 is altered

Each person carries two copies of the PRRT2 gene — one inherited from each parent. In most people affected by a PRRT2-related condition, **one of those two copies carries a change**, or mutation, that prevents it from producing a working protein. (The single most common change is known as *c.649dupC*.)

With only one functioning copy, the body produces less PRRT2 protein than it needs — a situation geneticists call **haploinsufficiency**. Less protein means a weaker brake. And with a weaker brake, neurons can become **over-excitable**, firing in sudden, uncontrolled bursts.

That single mechanism — too little PRRT2, and signaling that is no longer fully restrained — is the thread that connects nearly every condition associated with this gene.

## Why the symptoms come and go

A defining feature of PRRT2-related conditions is that they are **paroxysmal** — they happen in episodes. A person may be completely well, then experience a sudden event — a seizure, an attack of abnormal movement, a migraine — and then return to normal afterward.

This episodic, on-and-off pattern is one of the things that can make PRRT2-related conditions so difficult to identify. Between episodes, there may be nothing at all to see.

## A spectrum of conditions

PRRT2 is associated not with one disease but with a **spectrum** of related conditions. The most established include:

* **Paroxysmal kinesigenic dyskinesia (PKD)** — sudden episodes of involuntary movement, often triggered by sudden motion.
* **Benign (self-limited) familial infantile epilepsy** — seizures that begin in infancy and typically resolve in early childhood.
* **Infantile convulsions with choreoathetosis (ICCA)** — a combination of the two conditions above.
* **Hemiplegic migraine** — severe migraine with temporary weakness on one side of the body.

PRRT2-related conditions are inherited in an **autosomal dominant** pattern, meaning a single altered copy of the gene is enough to cause them. But they also show **variable expressivity and reduced penetrance** — even within one family, people carrying the very same mutation may have different symptoms, or no symptoms at all.

You can explore each of these in detail in [Associated Conditions](/associated-conditions/prrt2-spectrum.md).

{% hint style="warning" %}
**🧭 Foundation Note**

*The PRRT2 Foundation’s own synthesis and lived experience, offered alongside the established science — not as established medical fact.*

Most brief descriptions of PRRT2 focus on infants and young children — and on the conditions that resolve early. That focus is understandable, but it leaves a large part of the picture in shadow.

PRRT2 is not only a childhood gene. Its effects can appear, persist, or change across an entire lifetime, and many adults live with PRRT2-related symptoms — or carry the gene unknowingly — without ever being told that their experiences share a single cause.

Our view is that this is best understood as **one gene and one mechanism with many faces** — not a scattered list of separate disorders. Seeing it that way is what makes the adult experience, the undiagnosed, and the more unusual presentations visible instead of overlooked.
{% endhint %}

## Sources

The established science on this page is drawn from:

* [MedlinePlus Genetics — PRRT2 gene](https://medlineplus.gov/genetics/gene/prrt2/) — U.S. National Library of Medicine, NIH
* [GeneReviews — PRRT2-Related Disorder](https://www.ncbi.nlm.nih.gov/books/NBK475803/) — University of Washington / NCBI, updated 2024
* [OMIM — Entry 614386](https://omim.org/entry/614386) — Johns Hopkins University

For the complete set of authoritative references, see [Official Resources](/resources/official-resources.md).

## Continue reading

* [How the PRRT2 Gene Works](/prrt2-gene-overview/how-the-gene-works.md) — a closer look at the gene and its protein
* [The Sodium Channel Connection](/prrt2-gene-overview/sodium-channel-connection.md) — why this mechanism links so many symptoms
* [The PRRT2 Spectrum](/associated-conditions/prrt2-spectrum.md) — the full range of associated conditions