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Article

Paroxysmal kinesigenic dyskinesia and generalized seizures: clinical and genetic analysis in a Spanish pedigree.

Neuropediatrics - 1 Dec 2002

Cuenca-Leon E, Cormand B, Thomson T, Macaya A

Abstract excerpt

Familial paroxysmal kinesigenic dyskinesia (PKD) is a rare disorder featuring brief, dystonic or choreoathetotic attacks, typically triggered by sudden movements. Symptoms usually start in mid-childhood, although in several pedigrees infantile convulsions have been reported as the presenting sign. Previous linkage studies have identified two PKD loci on 16 p12.1-q21. We report here the clinical features of a...

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Identifiers

PMID: 12571782
DOI: 10.1055/s-2002-37079

Genes

PNKD

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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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