seizures, benign familial neonatal, 1
Findings
No curated finding names seizures, benign familial neonatal, 1 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 KCNQ2 gene.
Definition from the Mondo Disease Ontology (MONDO:0007365), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
2 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
- 11 of 12 reported patients
- Febrile seizure (within the age range of 3 months to 6 years)HPOHP:0002373
- 3 of 12 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.
- KCNQ2HGNC:6296
- Definitive · G2P · Autosomal dominant · 2015
Where it sits
- A kind of
Other names
4 names
Resolves to: seizures, benign familial neonatal, 1
- Also called
- benign neonatal seizures caused by mutation in KCNQ2KCNQ2 benign neonatal seizuresseizures, benign familial neonatal, type 1seizures, benign neonatal, 1