epilepsy, familial adult myoclonic, 5
Findings
No curated finding names epilepsy, familial adult myoclonic, 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the CNTN2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014167), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
7 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
- 5 of 5 reported patients
- MyoclonusHPOHP:0001336
- 5 of 5 reported patients
- TremorHPOHP:0001337
- 5 of 5 reported patients
- Focal impaired awareness seizureHPOHP:0002384
- 4 of 5 reported patients
- Focal sensory seizure with visual featuresHPOHP:0011165
- 3 of 5 reported patients
- Interictal epileptiform activityHPOHP:0011182
- 3 of 5 reported patients
- Hippocampal sclerosisHPO
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.
- CNTN2HGNC:2172
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Limited · Ambry Genetics · Autosomal recessive · 2024
Where it sits
- A kind of
Other names
4 names
Resolves to: epilepsy, familial adult myoclonic, 5
- Also called
- CNTN2 epilepsy, familial adult myoclonicepilepsy, familial adult myoclonic caused by mutation in CNTN2epilepsy, familial adult myoclonic, type 5epilepsy, myoclonic, familial adult, 5