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.
Highlights
There is a long-known relationship between human epilepsies and other paroxysmal brain disorders, such as paroxysmal dyskinesia, episodic ataxia or migraine
We found that two FS+ patients, one GEFS+ patient and one Dravet syndrome (DS) patient have this mutation. p.Arg217Glufs*12 (c.649delC) was found in two patients
We found some truncating frameshift mutations and missense mutations presenting in the febrile seizure-related epileptic patients
Summary
There is a long-known relationship between human epilepsies and other paroxysmal brain disorders, such as paroxysmal dyskinesia, episodic ataxia or migraine. They are all involuntary movements, which are spontaneous or triggered by various types of stimuli [1]. Several previous research studies described proline-rich transmembrane protein 2 (PRRT2) as the causative gene in some nervous system diseases, including paroxysmal kinesigenic dyskinesia (PKD), infantile convulsions with PKD, benign familial infantile epilepsy (BFIE), hemiplegic migraine and episodic ataxia alone [1,2,3,4,5,6,7,8,9,10,11,12,13]. Some studies on PRRT2 mutations in a small number of atypical benign familial and infantile epilepsies [9,14,15] provided evidence of the association between febrile seizures or childhood absence seizures and PRRT2 mutations; the presence of PRRT2 mutations in a broader spectrum of epileptic phenotypes has not been investigated clearly
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