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Article

PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects.

Oncotarget - 28 Jun 2016

Liu Yo-Tsen, Nian Fang-Shin, Chou Wan-Ju, Tai Chin-Yin, Kwan Shang-Yeong, Chen Chien, Kuo Pei-Wen, Lin Po-Hsi, Chen Chin-Yi, Huang Chia-Wei, Lee Yi-Chung, Soong Bing-Wen, Tsai Jin-Wu

Abstract excerpt

Mutations in the proline-rich transmembrane protein 2 (PRRT2) gene cause a wide spectrum of neurological diseases, ranging from paroxysmal kinesigenic dyskinesia (PKD) to mental retardation and epilepsy. Previously, seven PKD-related PRRT2 heterozygous mutations were identified in the Taiwanese population: P91QfsX, E199X, S202HfsX, R217PfsX, R217EfsX, R240X and R308C. This study aimed to investigate the...

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Source

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Identifiers

PMID: 27172900
DOI: 10.18632/oncotarget.9258
PMCID: PMC5129924

Genes

PRRT2
SNAP25

Variants

Provenance

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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PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects.PMID 27172900Read ↗

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