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Article

PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures.

Neurology - 20 Nov 2012

Scheffer Ingrid E, Grinton Bronwyn E, Heron Sarah E, Kivity Sara, Afawi Zaid, Iona Xenia, Goldberg-Stern Hadassa, Kinali Maria, Andrews Ian, Guerrini Renzo, Marini Carla, Sadleir Lynette G, Berkovic Samuel F, Dibbens Leanne M

Abstract excerpt

OBJECTIVE: Benign familial infantile epilepsy (BFIE) is an autosomal dominant epilepsy syndrome characterized by afebrile seizures beginning at about 6 months of age. Mutations in PRRT2, encoding the proline-rich transmembrane protein 2 gene, have recently been identified in the majority of families with BFIE and the associated syndrome of infantile convulsions and choreoathetosis (ICCA). We asked whether the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23077018
DOI: 10.1212/WNL.0b013e3182752c6c
PMCID: PMC3511925

Genes

PRRT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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