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PRRT2 mutations are related to febrile seizures in epileptic patients

Zheng-Wen He1, Jian Qu2, Ying Zhang3

  • 1Department of Neurosurgery, the Affiliated Cancer Hospital of Xiangya School of Medicine, Central South University, Changsha 410014, China. hezhengw@gmail.com.

International Journal of Molecular Sciences
|December 19, 2014
PubMed

Insights

Mutations in the proline-rich transmembrane protein 2 (PRRT2) gene are linked to various epilepsy syndromes, including febrile seizures. This research identifies PRRT2 mutations in 18.4% of patients with febrile seizures, suggesting a potential therapeutic target.

Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • The proline-rich transmembrane protein 2 (PRRT2) gene is associated with paroxysmal kinesigenic dyskinesia (PKD) and related epilepsy syndromes.
  • Previous research has established PRRT2 mutations in conditions like infantile convulsions with PKD and benign familial infantile epilepsy (BFIE).

Purpose of the Study:

  • To investigate the role of PRRT2 mutations in the etiology of febrile seizures, including febrile seizures plus (FS+), generalized epilepsy with febrile seizures plus (GEFS+), and Dravet syndrome (DS).
  • To explore PRRT2 as a potential drug target for personalized medicine in febrile seizure patients.

Main Methods:

  • Screening of PRRT2 exons in a cohort of 136 epileptic patients diagnosed with febrile seizures (FS+, GEFS+, DS).
  • Identification and characterization of PRRT2 genetic mutations using molecular screening techniques.

Main Results:

  • PRRT2 mutations were identified in 25 out of 136 (18.4%) patients with febrile seizures.
  • Five distinct 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).
  • These mutations included both loss-of-function and coding missense variants.

Conclusions:

  • PRRT2 variants are likely implicated in the pathogenesis of febrile seizures in epileptic patients.
  • The findings suggest PRRT2 as a significant genetic factor in febrile seizure disorders.
  • This study supports the potential of targeting PRRT2 for novel therapeutic strategies in epilepsy management.

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