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Article

Presynaptic PRRT2 Deficiency Causes Cerebellar Dysfunction and Paroxysmal Kinesigenic Dyskinesia.

Neuroscience - 10 Nov 2020

Calame Dylan J, Xiao Jianfeng, Khan Mohammad Moshahid, Hollingsworth T J, Xue Yi, Person Abigail L, LeDoux Mark S

Abstract excerpt

PRRT2 loss-of-function mutations have been associated with familial paroxysmal kinesigenic dyskinesia (PKD), infantile convulsions and choreoathetosis, and benign familial infantile seizures. Dystonia is the foremost involuntary movement disorder manifest by patients with PKD. Using a lacZ reporter and quantitative reverse-transcriptase PCR, we mapped the temporal and spatial distribution of Prrt2 in mouse brain...

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Identifiers

PMID: 32891704
DOI: 10.1016/j.neuroscience.2020.08.034
PMCID: PMC9547552

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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