benign familial infantile seizures 3

Summary
Synonym
  • Benign Familial Infantile Seizures, 3
  • benign familial neonatal-infantile seizures
Definition
A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutations in the SCN2A gene on chromosome 2q24.
Super Class
autosomal dominant disease benign familial infantile epilepsy
Disease Ontology
DOID:0081116
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
6326 SCN2A sodium voltage-gated channel alpha subunit 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
110876 Scn2a sodium channel, voltage-gated, type II, alpha
Displaying 1 entry
Gene ID Gene Symbol Description Source
24766 Scn2a sodium voltage-gated channel alpha subunit 2
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