SCN9A should not be considered an epilepsy gene; Refuting a gene–disease association

Ghanty, Ismael; Perez-Palma, Eduardo; Villaman, Camilo; Stobo, Daniel; Symonds, Joseph; Zuberi, Sameer; Lal, Dennis; Brunklaus, Andreas

Publication:
SCN9A should not be considered an epilepsy gene; Refuting a gene–disease association

Files

Epilepsia - 2025 - Ghanty - SCN9A should not be considered an epilepsy gene Refuting a gene disease association.pdf (1.41 MB)

Date

2026

Type:

Article

Collections

Artículos Medicina y Ciencias de la Salud

Descargas totales

1

Vistas totales

1

Métricas

Gestores bibliográficos

Authors

item.page.doiurl

https://doi.org/10.1111/epi.18474

URI

https://hdl.handle.net/11447/11080

item.page.extent

12 p.

item.page.accessRights

Acceso abierto

Abstract

Objective The SCN9A gene is primarily expressed in nociceptive pathways within the peripheral nervous system, and pathogenic variants are associated with human pain disorders. In recent years, several...

Citation

Ghanty I, Perez-Palma E, Villaman C, Stobo D, Symonds J, Zuberi S, et al. SCN9A should not be considered an epilepsy gene; Refuting a gene–disease association. Epilepsia. 2025; 66: 3516–3527. https://doi.org/10.1111/epi.18474

Keywords

Febrile seizures , GEFS+ , Genetic epilepsy , SCN9A , Sodium channels

Estadísticas de uso

1 0,8 0,5 0,3 0