PPRT2 Gene
- The PRRT2 gene (proline-rich transmembrane protein 2) acts like a chemical "brake" or regulator at synapses—the meeting points where brain cells pass signals to each other.
- It helps control how and when brain cells release chemical messengers (neurotransmitters)
What happens when there is a mutation?
- When a mutation occurs the body makes a broken or short protein, or not enough of it
- Without a "warning" brake," brain cells can become overly excitable and fire too easily.
How is it inherited?
- It is usually inherited from a parent in an autosomal dominant pattern (meaning you only need one copy of the mutated gene from one parent to be affected), though it can also happen spontaneously for the first time in a child.
- family members who share the exact same mutation can have completely different symptoms—or even no symptoms at all.
Where can I find more information on it?
How can I help or donate?
- You can read about the PPRT2 Gene Foundation and consider donating.
How common is this Gene?
- It is rare to have the PPRT2 Gene mutation
What are some symptoms?
- Each person has different symptoms. Some could include headaches, poor coordination, and generalised tonic-clonic seizures.
