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Article

Are SCN2A-related BFNISs also responsible for seizures in adulthood? A case report opens new scenarios.

American journal of medical genetics. Part A - 1 Nov 2024

Brunetti Sara, Muda Alice, Conti Chiara, Gazzina Stefano, Accorsi Patrizia, Giordano Lucio

Abstract excerpt

Large cohort studies and variant-specific electrophysiology have enabled the delineation of different SCN2A-epilepsy phenotypes, phenotype-genotype correlations, prediction of pharmacosensitivity to sodium channel blockers, and long-term prognostication for clinicians and families. One of the most common clinical presentations of SCN2A pathological variants is benign familial neonatal-infantile seizures (BFNIS),...

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Source

Identifiers

PMID: 38975734
DOI: 10.1002/ajmg.a.63813

Genes

SCN2A

Provenance

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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