generalized epilepsy with febrile seizures plus, type 1
MONDO:0011416Mondo
Findings
No curated finding names generalized epilepsy with febrile seizures plus, type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A generalized epilepsy with febrile seizures plus that has material basis in heterozygous mutation in SCN1B on chromosome 19q13.11.
Definition from the Mondo Disease Ontology (MONDO:0011416), 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.
- SCN1BHGNC:10586
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Moderate · Illumina · Autosomal dominant · 2021