PRRT2

Chr 16

proline rich transmembrane protein 2

Also known as: BFIC2, BFIS2, DSPB3, DYT10, EKD1, FICCA, ICCA, IFITMD1

NCBI Gene: 112476 ENSG00000167371 UniProt: Q7Z6L0

The protein is a transmembrane protein with a proline-rich domain that is predominantly expressed in brain and spinal cord during embryonic and postnatal development. Mutations cause autosomal dominant episodic kinesigenic dyskinesia, benign familial infantile seizures, and familial infantile convulsions with paroxysmal choreoathetosis. The pathogenic mechanism involves haploinsufficiency, as suggested by the low LOEUF score indicating intolerance to loss-of-function variants.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a transmembrane protein containing a proline-rich domain in its N-terminal half. Studies in mice suggest that it is predominantly expressed in brain and spinal cord in embryonic and postnatal stages. Mutations in this gene are associated with episodic kinesigenic dyskinesia-1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtEpisodic kinesigenic dyskinesia 1

UniProtConvulsions, familial infantile, with paroxysmal choreoathetosis

UniProtSeizures, benign familial infantile, 2

Clinical highlights

Management implications

Paroxysmal kinesigenic dyskinesia responds dramatically to low-dose carbamazepine.A low-dose sodium-channel blocker (oxcarbazepine or carbamazepine) is exquisitely effective for PRRT2 PKD.

PRRT2: treatable — low-dose oxcarbazepine or carbamazepine

Gene-disease validity (ClinGen)

infantile convulsions and choreoathetosis · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.56

LOEUF

LOF

Mechanism· G2P

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GeneReview available — PRRT2

Authoritative clinical overview · Recommended first read

Open GeneReview ↗

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Treatment implicationsTreatable

PRRT2-related paroxysmal kinesigenic dyskinesia / benign familial infantile epilepsy

A low-dose sodium-channel blocker (oxcarbazepine or carbamazepine) is exquisitely effective for PRRT2 PKD.

Paroxysmal kinesigenic dyskinesia responds dramatically to low-dose carbamazepine.

Treatment of choice

low-dose oxcarbazepine or carbamazepine

Ebrahimi-Fakhari et al. 2015 (GeneReviews). Confirm with a neurologist and current guidelines. Functional class (GOF/LOF) is from published functional/segregation data, never inferred from the variant. As of 2026-07. Curated from the clinical genetics/neurology literature (cited per gene). Decision-support, not prescribing.