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Updated: Jun 6, 2025

A Behavioral Screen for Heat-Induced Seizures in Mouse Models of Epilepsy
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Two Novel Variants in the CHRNA2 and SCN2A Genes in Italian Patients with Febrile Seizures

Radha Procopio1, Monica Gagliardi1, Mariagrazia Talarico2

  • 1Department of Medical and Surgical Sciences, Neuroscience Research Center, Magna Graecia University, 88100 Catanzaro, Italy.

Genes
|November 27, 2024
PubMed

Insights

Researchers identified two new genetic variants, one in CHRNA2 and one in SCN2A, associated with febrile seizures (FSs) in Italian children. These findings shed light on the genetic underpinnings of this common epilepsy form.

Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Febrile seizures (FSs) are the most common epilepsy form in children aged 6 months to 5 years.
  • Genetic predisposition, involving receptors and ion channels, is increasingly implicated in FSs.
  • The precise genetic causes of FSs remain largely unknown.

Purpose of the Study:

  • To identify novel pathogenic genetic variants in Italian patients diagnosed with febrile seizures.
  • To investigate the potential role of identified variants in the etiology of FSs.

Main Methods:

  • Targeted panel sequencing was employed on a cohort of 21 patients with FSs.
  • In silico analysis was conducted to predict the pathogenicity of identified variants.

Main Results:

  • Two novel variants were discovered segregating in two distinct families with FSs.
  • A c.1021C>G (p.Leu341Val) variant was identified in the CHRNA2 gene.
  • A c.140A>G (p.Glu47Gly) variant was identified in the SCN2A gene.

Conclusions:

  • The CHRNA2 variant (p.Leu341Val) affects a conserved leucine in a critical channel gating segment.
  • The SCN2A variant (p.Glu47Gly) impacts a conserved N-terminal domain residue, potentially affecting channel kinetics.
  • Further research is necessary to fully elucidate the roles of CHRNA2 and SCN2A in febrile seizure development.
Abstract

Keywords:
CHRNA2SCN2Afebrile seizuresnicotinic acetylcholine receptor (nAChR)voltage-gated sodium channel (Nav) 1.2

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