Progressive myoclonic epilepsy type 7
Progressive myoclonic epilepsy type 7
Definition
Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCNC1 gene.
Also known as epilepsy, progressive myoclonic type 7, EPM7, KCNC1 progressive myoclonic epilepsy, MEAK, myoclonus epilepsy and ataxia due to potassium channel mutation, PME type 7, progressive myoclonic epilepsy caused by mutation in KCNC1, progressive myoclonic epilepsy due to KV3.1 deficiency, progressive myoclonus epilepsy type 7 — per MONDO
Also identified as
- DOID 0111447 per MONDO
- NCIT C142804 per MONDO
- OMIM 616187 per MONDO
- Orphanet 435438 per MONDO
- UMLS C4015420 per MONDO
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Brain | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Brain | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Central nervous system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Central nervous system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Nervous system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Nervous system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |