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Int. J. Mol. Sci. 2014, 15(12), 23408-23417; doi:10.3390/ijms151223408

PRRT2 Mutations Are Related to Febrile Seizures in Epileptic Patients

Department of Neurosurgery, the Affiliated Cancer Hospital of Xiangya School of Medicine, Central South University, Changsha 410014, China
Department of Clinical Pharmacology, Xiangya Hospital, Central South University, Changsha 410008, China
Institute of Clinical Pharmacology, Central South University, Hunan Key Laboratory of Pharmacogenetics, Changsha 410078, China
Departments of Pharmacy and Neurology, Xiangya Hospital, Central South University, Changsha 410008, China
These authors contributed equally to this work.
Author to whom correspondence should be addressed.
Received: 29 October 2014 / Revised: 2 December 2014 / Accepted: 10 December 2014 / Published: 16 December 2014
(This article belongs to the Special Issue Pharmacogenetics and Personalized Medicine)
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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. View Full-Text
Keywords: proline-rich transmembrane protein 2; febrile seizures; mutation; epilepsy proline-rich transmembrane protein 2; febrile seizures; mutation; epilepsy

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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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MDPI and ACS Style

He, Z.-W.; Qu, J.; Zhang, Y.; Mao, C.-X.; Wang, Z.-B.; Mao, X.-Y.; Deng, Z.-Y.; Zhou, B.-T.; Yin, J.-Y.; Long, H.-Y.; Xiao, B.; Zhang, Y.; Zhou, H.-H.; Liu, Z.-Q. PRRT2 Mutations Are Related to Febrile Seizures in Epileptic Patients. Int. J. Mol. Sci. 2014, 15, 23408-23417.

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