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Article

Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia.

BMC neurology - 18 Sept 2012

Hedera Peter, Xiao Jianfeng, Puschmann Andreas, Momčilović Dragana, Wu Steve W, LeDoux Mark S

Abstract excerpt

BACKGROUND: Recently, heterozygous mutations in PRRT2 (Chr 16p11.2) have been identified in Han Chinese, Japanese and Caucasians with paroxysmal kinesigenic dyskinesia. In previous work, a paroxysmal kinesigenic dyskinesia locus was mapped to Chr 16p11.2 - q11.2 in a multiplex African-American fa...

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Source

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Identifiers

PMID: 22985072
DOI: 10.1186/1471-2377-12-93
PMCID: PMC3460747

Genes

PRRT2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22985072-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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