autosomal dominant nocturnal frontal lobe epilepsy 4
Findings
No curated finding names autosomal dominant nocturnal frontal lobe epilepsy 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA2 gene.
Definition from the Mondo Disease Ontology (MONDO:0012474), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Childhood onset · Late young adult 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.
- Nocturnal seizuresHPOHP:0031951
- 10 of 10 reported patients
- Neurodevelopmental abnormalityHPOHP:0012759
- 0 of 10 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.
- CHRNA2HGNC:1956
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · G2P · Autosomal dominant · 2025
- Limited · Illumina · Autosomal dominant · 2019
Where it sits
Other names
5 names
Resolves to: autosomal dominant nocturnal frontal lobe epilepsy 4
- Also called
- autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNA2autosomal dominant nocturnal frontal lobe epilepsy type 4CHRNA2 autosomal dominant nocturnal frontal lobe epilepsyENFL4epilepsy, nocturnal frontal lobe, type 4