Neuroradiologic Findings in Patients With SCN2A Disease: A Systematic Review and Retrospective Multicenter Cohort Study.

doi:10.1212/WNL.0000000000218541

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Article

Neuroradiologic Findings in Patients With SCN2A Disease: A Systematic Review and Retrospective Multicenter Cohort Study.

Neurology - 13 Oct 2026

Bamborschke Daniel, Bendella Zeynep, Allen Meagan, Salimbene Licia, Trivisano Marina, Fritzen Daniel, Henak Annika, Gverdtsiteli Sopio, Møller Rikke Steensbjerre, Specchio Nicola, Scheffer Ingrid E, Wolff Markus, Howell Katherine B, Clauberg Ralf, Fazeli Walid

Abstract excerpt

BACKGROUND AND OBJECTIVES: SCN2A disease spans a broad clinical spectrum from self-limited (familial) neonatal-infantile epilepsy to severe developmental and epileptic encephalopathies. Systematic characterization of the spectrum of neuroradiologic abnormalities in SCN2A disease has not been performed. This study aimed to delineate MRI findings across SCN2A phenotypes, their frequency and evolution, and their...

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Topics

Humans
NAV1.2 Voltage-Gated Sodium Channel
Retrospective Studies
Female
Magnetic Resonance Imaging

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Male

Child

Brain

Child, Preschool

Infant

Adolescent

Epilepsy

Cohort Studies

Phenotype

Source

Open in PubMed

Identifiers

PMID: 42758957
DOI: 10.1212/WNL.0000000000218541

Genes

SCN2A

Provenance

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