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Article

Frequency of SCN2A-related disorder in the regional epilepsy centre of brescia between 2002 and 2021.

Clinical neurology and neurosurgery - 1 Nov 2023

Filippi Corinna, Milito Giuseppe, Accorsi Patrizia, Muda Alice, Fazzi Elisa Maria, Martelli Paola, Riva Antonella, Giordano Lucio

Abstract excerpt

OBJECTIVE: SCN2A gene pathogenic variants are associated with a wide phenotypic spectrum, encompassing epilepsy, developmental delay, and autism spectrum disorder. Researches conducted in Denmark have revealed a disease frequency of approximately 1/78,608 (0.0012%) live births in this population. We estimated the frequency of SCN2A-related disorder in the birth cohort of Brescia and its province between 2002 and...

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Identifiers

PMID: 37776663
DOI: 10.1016/j.clineuro.2023.107983

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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