generalized epilepsy with febrile seizures plus, type 2
MONDO:0011461Mondo
Findings
No curated finding names generalized epilepsy with febrile seizures plus, type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any febrile seizures, familial in which the cause of the disease is a mutation in the SCN1A gene.
Definition from the Mondo Disease Ontology (MONDO:0011461), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SCN1AHGNC:10585
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
Where it sits
Other names
3 names
Resolves to: generalized epilepsy with febrile seizures plus, type 2
- Also called
- febrile seizures, familial caused by mutation in SCN1AGEFS+, type 2SCN1A febrile seizures, familial