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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...

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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 4 Sept 2026. Prepared record publication-25205014-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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