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Article

PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine.

Neurology - 20 Nov 2012

Marini Carla, Conti Valerio, Mei Davide, Battaglia Domenica, Lettori Donatella, Losito Emma, Bruccini Grazia, Tortorella Gaetano, Guerrini Renzo

Abstract excerpt

OBJECTIVE: To perform a clinical and genetic study of a family with benign familial infantile seizures (BFIS) and, upon finding a PRRT2 gene mutation, to study a cohort of probands with a similar phenotype. We extended the study to all available family members to find out whether PRRT2 mutations cosegregated with additional symptoms. METHODS: We carried out a clinical and genealogic study of a 3-generation family...

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Source

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Identifiers

PMID: 23077026
DOI: 10.1212/WNL.0b013e3182752ca2
PMCID: PMC3511926

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.

Related research

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PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine.PMID 23077026Read ↗

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

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Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions.Semantic proximity Read ↗

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