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Article

Unusual variability of PRRT2 linked phenotypes within a family.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jul 2014

Brueckner Frieder, Kohl Bernhard, Puest Burkhard, Gassner Silke, Osseforth Judith, Lindenau Matthias, Stodieck Stefan, Biskup Saskia, Lohmann Ebba

Abstract excerpt

BACKGROUND: Mutations in the proline-rich transmembrane protein 2 (PRRT2) gene on chromosome 16p11.2 have recently been identified as a cause of paroxysmal kinesigenic dyskinesias (PKD), infantile convulsions and choreoathetosis (ICCA) syndrome or infantile convulsions (IC). AIMS: Here, we describe a family with four affected members. They all suffer from different diseases: febrile convulsion, epileptic...

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Source

Identifiers

PMID: 24755245
DOI: 10.1016/j.ejpn.2014.03.012

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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