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Article

Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy.

Journal of medical genetics - 1 Mar 2013

Heron Sarah E, Dibbens Leanne M

Abstract excerpt

Mutations in the gene PRRT2 encoding proline-rich transmembrane protein 2 have recently been identified as the cause of three clinical entities: benign familial infantile epilepsy (BFIE), infantile convulsions with choreoathetosis (ICCA) syndrome, and paroxysmal kinesigenic dyskinesia (PKD). Patients with ICCA have both BFIE and PKD and families with ICCA may contain individuals who exhibit all three phenotypes....

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Source

Identifiers

PMID: 23343561
DOI: 10.1136/jmedgenet-2012-101406

Genes

PRRT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy.PMID 23343561Read ↗

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