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Article

SCN2A and arrhythmia: A potential correlation? A case report and literature review.

European journal of medical genetics - 1 Dec 2022

Tzialla Chryssoula, Arossa Alessia, Mannarino Savina, Orcesi Simona, Veggiotti Pierangelo, Fiandrino Giacomo, Zuffardi Orsetta, Errichiello Edoardo

Abstract excerpt

Variants in SCN2A, encoding the voltage-gated sodium channel Nav1.2, are commonly associated with developmental and epileptic encephalopathy. Although animal studies demonstrated a role for Nav1.2 in intraventricular conduction, heart anomalies have been only occasionally described in patients with SCN2A variants. In this report we trace the prenatal and neonatal history of a fetus/newborn with a de novo...

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Arrhythmias, Cardiac
Mutation
NAV1.2 Voltage-Gated Sodium Channel
Phenotype

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 36206969
DOI: 10.1016/j.ejmg.2022.104639

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

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