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Article

Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP.

Epilepsy research - 1 May 2013

Labate Angelo, Tarantino Patrizia, Palamara Grazia, Gagliardi Monica, Cavalcanti Francesca, Ferlazzo Edoardo, Sturniolo Miriam, Incorpora Gemma, Annesi Grazia, Aguglia Umberto, Gambardella Antonio

Abstract excerpt

Mutations of PRRT2, which encodes proline-rich transmembrane protein 2, are associated with heterogeneous phenotypes including benign familial infantile seizures (BFIS) and/or familial paroxysmal kinesigenic dystonia (PKD). Here, we performed mutation screening of PRRT2 in six Italian families with BFIS/PKD phenotypes. The mutation, c.649dupC (p.Arg217ProfsX8), was found in two families with BFIS phenotype. In a...

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Source

Identifiers

PMID: 23352743
DOI: 10.1016/j.eplepsyres.2012.10.014

Genes

PRRT2

Variants

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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Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP.PMID 23352743Read ↗

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