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Article

Clinical and polygraphic study of familial paroxysmal kinesigenic dyskinesia with PRRT2 mutation.

Epileptic disorders : international epilepsy journal with videotape - 1 Jun 2013

Fabbri Margherita, Marini Carla, Bisulli Francesca, Di Vito Lidia, Elia Antonio, Guerrini Renzo, Mei Davide, Tinuper Paolo

Abstract excerpt

BACKGROUND: Paroxysmal kinesigenic dyskinesia is a neurological condition characterised by brief attacks of involuntary movements triggered by sudden voluntary movements. METHODS: We describe the clinical, polygraphic, and genetic features of an Italian family with paroxysmal kinesigenic dyskinesia. RESULTS: Paroxysmal kinesigenic dyskinesia manifested as brief choreoathetosic-dystonic attacks precipitated by...

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Source

Identifiers

PMID: 23771590
DOI: 10.1684/epd.2013.0569

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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