familial focal epilepsy with variable foci 4

Summary
Definition
A familial focal epilepsy with variable foci that is characterized by onset of focal seizures in the first years of life and that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24.
Super Class
familial focal epilepsy with variable foci
Disease Ontology
DOID:0081424
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
6328 SCN3A sodium voltage-gated channel alpha subunit 3
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q9NY46 Sodium channel protein type 3 subunit alpha

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 8, 2025