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Article

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

Genes - 30 Oct 2024

Procopio Radha, Gagliardi Monica, Talarico Mariagrazia, Fortunato Francesco, Sammarra Ilaria, Procopio Anna Caterina, Roncada Paola, Malanga Donatella, Annesi Grazia, Gambardella Antonio

Abstract excerpt

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...

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Child
Child, Preschool
Infant
Italy
NAV1.2 Voltage-Gated Sodium Channel

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Receptors, Nicotinic

Seizures, Febrile

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Open in PubMed Open full text

Identifiers

PMID: 39596607
DOI: 10.3390/genes15111407
PMCID: PMC11593345

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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