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Article

Paroxysmal kinesigenic dyskinesia: clinical report of 10 cases from three pedigrees with literature review.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 22 May 2026

Sun Yuchen, Cao Huifang, Wang Xiaoqing

Abstract excerpt

OBJECTIVE: To characterize the clinical and genetic features of 10 paroxysmal kinesigenic dyskinesia (PKD) patients from three Chinese pedigrees, with emphasis on intrafamilial phenotypic variability and the broader PRRT2-associated disease spectrum. METHODS: Clinical data were collected from PKD patients attending the Department of Neurology, Second Hospital of Hebei Medical University (January 2023 - December...

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Source

Identifiers

PMID: 42168455
DOI: 10.1007/s10072-026-09099-w

Genes

PRRT2
KCNA1
SCN8A
TMEM151A

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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The Phenotypic and Genetic Spectrum of Paroxysmal Kinesigenic Dyskinesia in China.Semantic proximity Read ↗

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Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene.Semantic proximity Read ↗

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