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familial adult myoclonic epilepsy 5
Summary
- Synonym
-
- FAME5
- FCMTE5
- familial cortical myoclonic tremor and epilepsy 5
- Definition
- A familial adult myoclonic epilepsy characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor that has_material_basis_in homozygous or compound heterozygous mutation in the CNTN2 gene on chromosome 1q32.1.
- Super Class
- autosomal recessive disease familial adult myoclonic epilepsy
External Links
- Disease Ontology
- DOID:0111691
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q02246 | Contactin-2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001249 | Intellectual disability |
| HP:0001336 | Myoclonus |
| HP:0002197 | Generalized-onset seizure |
| HP:0100576 | Amaurosis fugax |
| HP:0002353 | EEG abnormality |
| HP:0002378 | Hand tremor |
| HP:0002315 | Headache |
| HP:0007359 | Focal-onset seizure |
| HP:0003621 | Juvenile onset |
| HP:0001337 | Tremor |
