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Article

[Phenotypes and PRRT2 mutation analysis in families with benign familial infantile epilepsy].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Nov 2014

Yang Xiaoling, Zhang Yuehua, Xu Xiaojing, Yu Xiaoli, Zhang Xiuju, Yang Zhixian, Wang Shuang, Wu Ye, Liu Xiaoyan, Wu Xiru

Abstract excerpt

OBJECTIVE: To study the phenotypes and proline-rich transmembrane protein 2 (PRRT2) mutations in families with benign familial infantile epilepsy (BFIE). METHOD: Data of all BFIE probands and their family members were collected from Peking University First Hospital between September 2006 and August 2013. Clinical phenotypes of affected members were analyzed. Genomic DNA was extracted from peripheral blood samples...

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Source

Identifiers

PMID: 25582463

Genes

PRRT2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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