seizures, benign familial neonatal, 2
Findings
No curated finding names seizures, benign familial neonatal, 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ3 gene.
Definition from the Mondo Disease Ontology (MONDO:0007366), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
4 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.
- Focal clonic seizureHPOHP:0002266
- 21 of 22 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 7 reported patients · Neonatal onset
- 0 of 15 reported patients
- Global developmental delayHPOHP:0001263
- 0 of 15 reported patients
- Intellectual disabilityHPOHP:0001249
- 0 of 7 reported patients
Genes
2 genes
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.
Where it sits
- A kind of
Other names
4 names
Resolves to: seizures, benign familial neonatal, 2
- Also called
- benign neonatal seizures caused by mutation in KCNQ3KCNQ3 benign neonatal seizuresseizures, benign familial neonatal, type 2seizures, benign neonatal, 2