PRRT2 Mutations Are Related to Febrile Seizures in Epileptic Patients

International Journal of Molecular Sciences

Zheng-Wen He¹  Jian Qu³  Ying Zhang³  Chen-Xue Mao³  Zhi-Bin Wang³  Xiao-Yuan Mao³  Zhi-Yong Deng¹  Bo-Ting Zhou⁴  Ji-Ye Yin³  Hong-Yu Long²  Bo Xiao²  Yu Zhang³  Hong-Hao Zhou³  Zhao-Qian Liu³ 

[1] Department of Neurosurgery, the Affiliated Cancer Hospital of Xiangya School of Medicine, Central South University, Changsha 410014, China; E-Mails:;Departments of Pharmacy and Neurology, Xiangya Hospital, Central South University, Changsha 410008, China; E-Mails:;Department of Clinical Pharmacology, Xiangya Hospital, Central South University, Changsha 410008, China; E-Mails:;Institute of Clinical Pharmacology, Central South University, Hunan Key Laboratory of Pharmacogenetics, Changsha 410078, China; E-Mail:

关键词: proline-rich transmembrane protein 2;    febrile seizures;    mutation;    epilepsy;   

DOI  :  10.3390/ijms151223408

来源: mdpi

【 摘 要 】

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); 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>G (p.Pro138Ala), c.439G>C (p.Asp147His) and c.623C>A (p.Ser208Tyr). PRRT2 variants were probably involved in the etiology of febrile seizures in epileptic patients.

【 授权许可】

CC BY   
© 2014 by the authors; licensee MDPI, Basel, Switzerland.