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Article

PRRT2 Mutant Leads to Dysfunction of Glutamate Signaling.

International journal of molecular sciences - 23 Apr 2015

Li Ming, Niu Fenghe, Zhu Xilin, Wu Xiaopan, Shen Ning, Peng Xiaozhong, Liu Ying

Abstract excerpt

Paroxysmal kinesigenic choreoathetosis (PKC) is an inherited disease of the nervous system. We previously identified PRRT2 as the causative gene of PKC. However, as little is known about the function of PRRT2, elucidating its function will benefit not only PKC studies, but also many other related...

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Source

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Identifiers

PMID: 25915028
DOI: 10.3390/ijms16059134
PMCID: PMC4463582

Genes

PRRT2
GRIA1
SNAP25

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25915028-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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