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
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
6328 SCN3A sodium voltage-gated channel alpha subunit 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
20269 Scn3a sodium channel, voltage-gated, type III, alpha
Displaying 1 entry
Gene ID Gene Symbol Description Source
497770 Scn3a sodium voltage-gated channel alpha subunit 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
32619 para paralytic

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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 9, 2024