PRRT2

PRRT2 (Proline Rich Transmembrane Protein 2) is a protein that in humans is encoded by the PRRT2 gene. It is primarily associated with neurological disorders, including paroxysmal kinesigenic dyskinesia and infantile convulsions.

Function

The PRRT2 protein is a member of the proline-rich proteins family. It is a transmembrane protein that is thought to play a role in synaptic exocytosis and neurotransmitter release, although the exact function is not fully understood.

Clinical significance

Mutations in the PRRT2 gene are associated with a variety of neurological disorders. These include:

• Paroxysmal kinesigenic dyskinesia (PKD): This is the most common condition associated with PRRT2 mutations. PKD is a movement disorder characterized by involuntary movements triggered by sudden motion.
• Infantile convulsions: PRRT2 mutations can also cause a form of epilepsy known as benign familial infantile epilepsy (BFIE). This condition typically begins in infancy and resolves by age 2.
• Hemiplegic migraine: Some individuals with PRRT2 mutations experience this type of migraine, which involves temporary paralysis or sensory changes on one side of the body before or during a headache.

Genetics

The PRRT2 gene is located on the short (p) arm of chromosome 16 at position 11.2. It is inherited in an autosomal dominant manner, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

Diagnosis

Diagnosis of conditions associated with PRRT2 mutations is based on clinical symptoms and confirmed by genetic testing.

Treatment

Treatment for conditions associated with PRRT2 mutations is symptomatic and may include medications to control seizures or movement disorders.

See also

• Proline
• Transmembrane protein
• Neurological disorders
• Genetic testing