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Article

Functional characterization of a novel PRRT2 variant found in a Portuguese patient with hemiplegic migraine.

Clinical genetics - 1 Oct 2023

Dias Andreia, Santos Mariana, Carvalho Estefânia, Felício Daniela, Silva Paulo, Alves Ivânia, Pinho Teresa, Sousa Alda, Alves-Ferreira Miguel, Lemos Carolina

Abstract excerpt

Familial hemiplegic migraine (FHM) is a rare autosomal-dominant form of migraine with aura. Three disease-causing genes have been identified for FHM: CACNA1A, ATP1A2 and SCN1A. However, not all families are linked to one of these three genes.PRRT2 variants were also commonly associated with HM symptoms; therefore, PRRT2 is hypothesized as the fourth gene causing FHM. PRRT2 plays an important role in neuronal...

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Identifiers

PMID: 37243399
DOI: 10.1111/cge.14379

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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