Mutation screening of the PRRT2 gene for benign epilepsy with centrotemporal spikes in Chinese mainland population

Abstract

Proline-rich transmembrane protein 2 gene (PRRT2) mutations are reported to cause common paroxysmal neurological disorders and show a remarkable pleiotropy. Benign epilepsy with centrotemporal spikes (BECTS) is considered to be the most common epilepsy syndrome in childhood. It is placed among the idiopathic localization related epilepsies. Recently, it was reported that a girl with a PRRT2 mutation c.649_650insC developed infantile focal epilepsy with bilateral spikes which resembled the rolandic spikes. Hereby we performed a comprehensive genetic mutation screening of PRRT2 gene in a cohort of 53 sporadic BECTS patients. None of the 53 sporadic BECTS patients and other 250 controls carried mutations including c.649_650insC in PRRT2. Our data indicated that the PRRT2 mutations might most likely not be associated with BECTS in Chinese mainland population.

KEYWORDS:

• PRRT2 gene
• mutation
• benign epilepsy with centrotemporal spikes
• Chinese mainland population

Acknowledgements

We thank the patients and their families for their partici-pation in this project.

Declaration of Interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the article.

Major State Basic Research Development Program of China (973 Program) [grant number 2011CB 510000]; National Natural Science Foundation of China [grant number 30900469], [grant number 81130021], [grant number 81171198], [grant number 81000542], [grant number 81300980]; Fundamental Research Funds for the Central University of China [grant number 2012QNZT113]; Central South University Graduate Innovation Fund of Independent Exploration ([grant number 2014zzts076], to Xiang-qian Che).