title: PRRT2 mutations are related to febrile seizures in epileptic patients.
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); 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.
authors.affiliation: Department of Neurosurgery, the Affiliated Cancer Hospital of Xiangya School of Medicine, Central South University, Changsha 410014, China. hezhengw@gmail.com.
authors.forename: Zheng-Wen
authors.initials: ZW
authors.lastname: He
authors.affiliation: Department of Clinical Pharmacology, Xiangya Hospital, Central South University, Changsha 410008, China. seemore126@gmail.com.
authors.forename: Jian
authors.initials: J
authors.lastname: Qu
authors.affiliation: Department of Clinical Pharmacology, Xiangya Hospital, Central South University, Changsha 410008, China. yz_fly@csu.edu.cn.
authors.forename: Ying
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: Department of Clinical Pharmacology, Xiangya Hospital, Central South University, Changsha 410008, China. sharemix@csu.edu.cn.
authors.forename: Chen-Xue
authors.initials: CX
authors.lastname: Mao
authors.affiliation: Department of Clinical Pharmacology, Xiangya Hospital, Central South University, Changsha 410008, China. wangzhibinup@gmail.com.
authors.forename: Zhi-Bin
authors.initials: ZB
authors.lastname: Wang
authors.affiliation: Department of Clinical Pharmacology, Xiangya Hospital, Central South University, Changsha 410008, China. xiaoyuanm@csu.edu.cn.
authors.forename: Xiao-Yuan
authors.initials: XY
authors.lastname: Mao
authors.affiliation: Department of Neurosurgery, the Affiliated Cancer Hospital of Xiangya School of Medicine, Central South University, Changsha 410014, China. dzyong111@gmail.com.
authors.forename: Zhi-Yong
authors.initials: ZY
authors.lastname: Deng
authors.affiliation: Institute of Clinical Pharmacology, Central South University, Hunan Key Laboratory of Pharmacogenetics, Changsha 410078, China. botingzhou0918@gmail.com.
authors.forename: Bo-Ting
authors.initials: BT
authors.lastname: Zhou
authors.affiliation: Department of Clinical Pharmacology, Xiangya Hospital, Central South University, Changsha 410008, China. yinjiye@csu.edu.cn.
authors.forename: Ji-Ye
authors.initials: JY
authors.lastname: Yin
authors.affiliation: Departments of Pharmacy and Neurology, Xiangya Hospital, Central South University, Changsha 410008, China. longhongyu@csu.edu.cn.
authors.forename: Hong-Yu
authors.initials: HY
authors.lastname: Long
authors.affiliation: Departments of Pharmacy and Neurology, Xiangya Hospital, Central South University, Changsha 410008, China. boxiaoxiao123@gmail.com.
authors.forename: Bo
authors.initials: B
authors.lastname: Xiao
authors.affiliation: Department of Clinical Pharmacology, Xiangya Hospital, Central South University, Changsha 410008, China. yz_fly@csu.edu.cn.
authors.forename: Yu
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: Department of Clinical Pharmacology, Xiangya Hospital, Central South University, Changsha 410008, China. honghaozhou2012@gmail.com.
authors.forename: Hong-Hao
authors.initials: HH
authors.lastname: Zhou
authors.affiliation: Department of Clinical Pharmacology, Xiangya Hospital, Central South University, Changsha 410008, China. zqliu@mail.csu.edu.cn.
authors.forename: Zhao-Qian
authors.initials: ZQ
authors.lastname: Liu
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D003294:Seizures, Febrile / Q000175:diagnosis / Q000235:genetics*; D055815:Young Adult
chemical_list: D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C569370:PRRT2 protein, human