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Article

PRRT2 mutations are related to febrile seizures in epileptic patients.

International journal of molecular sciences - 16 Dec 2014

He Zheng-Wen, Qu Jian, Zhang Ying, Mao Chen-Xue, Wang Zhi-Bin, Mao Xiao-Yuan, Deng Zhi-Yong, Zhou Bo-Ting, Yin Ji-Ye, Long Hong-Yu, Xiao Bo, Zhang Yu, Zhou Hong-Hao, Liu Zhao-Qian

Abstract excerpt

Previous studies reported that the proline-rich transmembrane protein 2 (PRRT2) gene was identified to be related to paroxysmal kinesigenic dyskinesia (PKD), infantile convulsions with PKD, PKD with migraine and benign familial infantile epilepsy (BFIE). The present study explores whether the PRRT2 mutation is a potential cause of febrile seizures, including febrile seizures plus (FS+), generalized epilepsy with...

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Source

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Identifiers

PMID: 25522171
DOI: 10.3390/ijms151223408
PMCID: PMC4284774

Genes

PRRT2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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PRRT2 mutations are related to febrile seizures in epileptic patients.PMID 25522171Read ↗

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Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions.Semantic proximity Read ↗

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PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures.Semantic proximity Read ↗

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