seizures, benign familial infantile, 5
Findings
No curated finding names seizures, benign familial infantile, 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN8A gene.
Definition from the Mondo Disease Ontology (MONDO:0014903), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
3 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Bilateral tonic-clonic seizureHPOHP:0002069
- 15 of 16 reported patients
- Paroxysmal dyskinesiaHPOHP:0007166
- 5 of 16 reported patients
- Focal impaired awareness seizureHPOHP:0002384
- 3 of 16 reported patients
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.
- SCN8AHGNC:10596
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
Where it sits
- A kind of
Other names
5 names
Resolves to: seizures, benign familial infantile, 5
- Also called
- benign familial infantile epilepsy caused by mutation in SCN8ABFIS5SCN8A benign familial infantile epilepsyseizures, benign familial infantile, 5; BFIS5seizures, benign familial infantile, type 5