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Article

Novel missense variant in the TMEM151A gene causing paroxysmal kinesigenic dyskinesia: a case report with literature review.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Apr 2023

Liu Yue, Wang Liang, Li Zhenfei, Ji Guang, Liu Yaling

Abstract excerpt

BACKGROUND: Paroxysmal kinesigenic dyskinesia (PKD) is a rare movement disorder with high clinical and genetic heterogeneity. Proline-rich transmembrane protein 2 (PRRT2) was identified as the first causative gene for PKD in 2011. Recently, heterozygous variants in transmembrane protein 151A (TMEM151A) were identified as another pathogenic cause of PKD. CASE DESCRIPTION: A 16-year-old man diagnosed with PKD...

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PMID: 36781563
DOI: 10.1007/s10072-023-06669-0

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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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