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Article

PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine.

Neurology - 20 Nov 2012

Cloarec Robin, Bruneau Nadine, Rudolf Gabrielle, Massacrier Annick, Salmi Manal, Bataillard Marc, Boulay Clotilde, Caraballo Roberto, Fejerman Natalio, Genton Pierre, Hirsch Edouard, Hunter Alasdair, Lesca Gaetan, Motte Jacques, Roubertie Agathe, Sanlaville Damien, Wong Sau-Wei, Fu Ying-Hui, Rochette Jacques, Ptácek Louis J, Szepetowski Pierre

Abstract excerpt

OBJECTIVE: Whole genome sequencing and the screening of 103 families recently led us to identify PRRT2 (proline-rich-transmembrane protein) as the gene causing infantile convulsions (IC) with paroxysmal kinesigenic dyskinesia (PKD) (PKD/IC syndrome, formerly ICCA). There is interfamilial and intr...

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Source

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Identifiers

PMID: 23077017
DOI: 10.1212/WNL.0b013e3182752c46
PMCID: PMC3511924

Genes

PRRT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23077017-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine.PMID 23077017Read ↗

PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine.Semantic proximity Read ↗

PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions.Semantic proximity Read ↗

PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population.Semantic proximity Read ↗

[Clinical features and PRRT2 mutations in infantile convulsions with paroxysmal choreoathetosis].Semantic proximity Read ↗

PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine.Semantic proximity Read ↗

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

PRRT2-related disorders: further PKD and ICCA cases and review of the literature.Semantic proximity Read ↗

PRRT2 Mutations in Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions in a Taiwanese CohortSemantic proximity Read ↗

PRRT2 is mutated in familial and non-familial benign infantile seizures.Semantic proximity Read ↗

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.Semantic proximity Read ↗

The evolving spectrum of PRRT2-associated paroxysmal diseases.Semantic proximity Read ↗

Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.Semantic proximity Read ↗

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