Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy.

doi:10.1002/epi.70100

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Article

Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy.

Epilepsia - 1 May 2026

Tan Marsha, Goad Beatrice Southby, Allen Meagan, Rodda Jill, Richards Kay L, Ardern-Holmes Simone L, Bamborschke Daniel, Fritzen Daniel, Hughes Inna, Riney Kate, Martinez Ana Roche, Russo Angelo, Sinclair Adriane, Sartori Stefano, Trivisano Marina, De Dominicis Angela, Specchio Nicola, Møller Rikke S, Scheffer Ingrid E, Fazeli Walid, Wolff Markus, Petrou Steven, Howell Katherine B, Berecki Géza

Abstract excerpt

OBJECTIVE: SCN2A loss-of-function (LoF) variants are associated with epilepsy (onset age ≥ 3 months), intellectual disability (ID), and autism spectrum disorder (ASD). Despite numerous identified variants and the description of phenotypic subgroups, relationships between Nav1.2 channel dysfunction and clinical phenotypes remain unclear. This study examined how distinct LoF mechanisms relate to phenotypic...

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Identifiers

PMID: 41642117
DOI: 10.1002/epi.70100
PMCID: PMC13179650

Genes

SCN2A

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 11 Sept 2026.

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