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Article

Paroxysmal kinesigenic dyskinesia and myotonia congenita in the same family: coexistence of a PRRT2 mutation and two CLCN1 mutations.

Neuroscience bulletin - 1 Dec 2014

Li Hong-Fu, Chen Wan-Jin, Ni Wang, Wu Zhi-Ying

Abstract excerpt

Paroxysmal kinesigenic dyskinesia (PKD) and myotonia congenita (MC) are independent disorders that share some clinical features. We aimed to investigate the sequences of PRRT2 and CLCN1 in a proband diagnosed with PKD and suspected MC. Clinical evaluation and auxiliary examinations were performed. Direct sequencing of the entire coding regions of the PRRT2 and CLCN1 genes was conducted. Haplotype analysis...

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Source

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Identifiers

PMID: 25205014
DOI: 10.1007/s12264-014-1467-7
PMCID: PMC5562558

Genes

CLCN1
PRRT2

Variants

Provenance

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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