Two Novel Variants in the CHRNA2 and SCN2A Genes in Italian Patients with Febrile Seizures.

ABSTRACT:

Background

Febrile seizures (FSs) are the most common form of epilepsy in children aged between six months and five years. The exact cause is unknown, but several studies have demonstrated the importance of genetic predisposition, with increasing involvement of receptors and ion channels. The present study aims to identify novel pathogenic variants in Italian patients with FSs.

Methods

We performed targeted panel sequencing in a cohort of 21 patients with FSs. In silico analysis was performed to predict the pathogenic role of the resulting variants.

Results

We found two novel variants segregating in two families with FSs: c.1021C>G (p.Leu341Val) in the CHRNA2 gene and c.140A>G (p.Glu47Gly) in SCN2A.

Conclusions

The c.1021C>G (p.Leu341Val) variant

SUBMITTER: Procopio R 

PROVIDER: S-EPMC11593345 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature