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PRRT2 mutations are related to febrile seizures in epileptic patients

Authors :: Ji-Ye Yin
Hong-Hao Zhou
Zhao-Qian Liu
Xiao-Yuan Mao
Jian Qu
Bo Xiao
Boting Zhou
Chen-Xue Mao
Ying Zhang
Zheng-Wen He
Yu Zhang
Zhi-Bin Wang
Hongyu Long
Zhi-Yong Deng
Source :: International Journal of Molecular Sciences, International Journal of Molecular Sciences, Vol 15, Iss 12, Pp 23408-23417 (2014), Volume 15, Issue 12, Pages 23408-23417
Publication Year :: 2014
Abstract: 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 febrile seizures plus (GEFS+) and Dravet syndrome (DS)<br />thus, it may provide a new drug target for personalized medicine for febrile seizure patients. We screened PRRT2 exons in a cohort of 136 epileptic patients with febrile seizures, including FS+, GEFS+ and DS. PRRT2 genetic mutations were identified in 25 out of 136 (18.4%) febrile seizures in epileptic patients. Five loss-of-function and coding missense mutations were identified: c.649delC (p.R217Efs*12), c.649_650insC (p.R217Pfs*8), c.412C&gt<br />G (p.Pro138Ala), c.439G&gt<br />C (p.Asp147His) and c.623C&gt<br />A (p.Ser208Tyr). PRRT2 variants were probably involved in the etiology of febrile seizures in epileptic patients.