progressive myoclonic epilepsy type 7
Findings
No curated finding names progressive myoclonic epilepsy type 7 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCNC1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014521), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Progressive · Childhood onset
HPO, annotations 2026-09-02
Features
8 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
- 15 of 15 reported patients
- EEG with generalized epileptiform dischargesHPOHP:0011198
- 16 of 16 reported patients
- MyoclonusHPOHP:0001336
- 16 of 16 reported patients
- Myoclonic seizureHPOHP:0032794
- 14 of 15 reported patients
- Mental deteriorationHPOHP:0001268
- 9 of 15 reported patients
- Cerebellar atrophyHPOHP:0001272
- Occasional (5% to 29% of cases)
- AtaxiaHPO
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.
- KCNC1HGNC:6233
- Definitive · Ambry Genetics · Autosomal dominant · 2023
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
9 names
Resolves to: progressive myoclonic epilepsy type 7
- Also called
- epilepsy, progressive myoclonic type 7EPM7KCNC1 progressive myoclonic epilepsyMEAKmyoclonus epilepsy and ataxia due to potassium channel mutationPME type 7progressive myoclonic epilepsy caused by mutation in KCNC1progressive myoclonic epilepsy due to KV3.1 deficiencyprogressive myoclonus epilepsy type 7