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Article

PRRT2 is mutated in familial and non-familial benign infantile seizures.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jan 2013

Specchio Nicola, Terracciano Alessandra, Trivisano Marina, Cappelletti Simona, Claps Dianela, Travaglini Lorena, Cusmai Raffaella, Marras Carlo Efisio, Zara Federico, Fusco Lucia, Bertini Enrico, Vigevano Federico

Abstract excerpt

BACKGROUND: Mutations of protein-rich transmembrane protein 2 (PRRT2) were recently associated to benign familial infantile seizures (BFIS) (MIM 605751) and paroxysmal kinesigenic dyskinesias (PKD) (MIM12800). AIMS: To report mutations of PRRT2 in BFIS, infantile convulsions and choreoathetosis (ICCA), and in sporadic cases affected by benign infantile epilepsy (BIE). METHODS: A mutational screening of PRRT2 was...

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Source

Identifiers

PMID: 22902423
DOI: 10.1016/j.ejpn.2012.07.006

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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PRRT2 is mutated in familial and non-familial benign infantile seizures.PMID 22902423Read ↗

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PRRT2 mutations are the major cause of benign familial infantile seizures.Semantic proximity Read ↗

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