Progressive myoclonic epilepsy type 7
Synonyms: EPM7 · MEAK · Myoclonus epilepsy and ataxia due to potassium channel mutation · PME type 7 · Progressive myoclonic epilepsy due to KV3.1 deficiency · Progressive myoclonus epilepsy type 7
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare, genetic, neurological disorder characterized by childhood to adolescent onset of progressive myoclonus (which becomes very severe and results in major motor impediment) associated with infrequent tonic-clonic seizures, and, occasionally, ataxia. Learning disability prior to seizure onset and mild cognitive decline may be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progressive myoclonic epilepsy type 7 | EPM7 · MEAK · Myoclonus epilepsy and ataxia due to potassium channel mutation · PME type 7 · Progressive myoclonic epilepsy due to KV3.1 deficiency · Progressive myoclonus epilepsy type 7 |
| fr | Epilepsie myoclonique progressive type 7 | EMP type 7 · EPM7 · Epilepsie myoclonique progressive par déficit en KV3.1 · MEAK · PME type 7 |
| de | Myoklonusepilepsie, progressive, Typ 7 | EPM7 · MEAK · Myoklonusepilepsie und Ataxie durch Kaliumkanaldefekt · Myoklonusepilepsie, progressive, durch KV3.1-Mangel · PME Typ 7 |
| es | Epilepsia mioclónica progresiva tipo 7 | Epilepsia con mioclonías y ataxia por una mutación en el canal del potasio · Epilepsia mioclónica progresiva por deficiencia de KV3.1 · Epilepsia progresiva con mioclonías tipo 7 · MEAK · EMP tipo 7 · EPM7 |
| it | Epilessia mioclonica progressiva, tipo 7 | EPM7 · Epilessia mioclonica e atassia da mutazione del canale di potassio · Epilessia mioclonica progressiva da deficit di KV3.1 · Epilessia progressiva con mioclonie, tipo 7 · MEAK · PME, tipo 7 |
| nl | Progressieve myoclonische epilepsie type 7 | EPM7 · MEAK · Myoclonusepilepsie en ataxie door kaliumkanaalmutatie · PME type 7 · Progressieve myoclonische epilepsie door KV3.1-deficiëntie · Progressieve myoclonusepilepsie type 7 |
| pt | Epilepsia mioclónica progressiva, tipo 7 | |
| pl | Postępująca padaczka miokloniczna typu 7 | EPM7 · MEAK · Padaczka miokloniczna i ataksja spowodowane mutacją kanału potasowego · PME typu 7 · Postępująca padaczka miokloniczna spowodowana niedoborem KV3.1 |
| cs | Progresivní myoklonická epilepsie, typ 7 | EPM7 · MEAK · PME typ 7 · Myoklonická epilepsie a ataxie způsobená mutací v draslíkovém kanálu · Progresivní myoklonická epilepsie způsobená deficitem KV3.1 |
| uk | Прогресуюча міоклонічна епілепсія, тип 7 | EPM7 · MEAK · Міоклонусна епілепсія та атаксія внаслідок мутації калієвих каналів · PME тип 7 · Прогресуюча міоклонічна епілепсія внаслідок дефіциту KV3.1 · Прогресуюча міоклонусна епілепсія типу 7 |
| zh | 进行性肌阵挛性癫痫7型 | 钾通道突变导致肌阵挛性癫痫和共济失调 |
| tr | İlerleyici miyoklonik epilepsi tip 7 | EPM7 · MEAK · PME tip 7 · İlerleyici miyoklonus epilepsi tip 7 · KV3.1 eksikliğine bağlı İlerleyici miyoklonik epilepsi · Potasyum kanal mutasyonu nedeniyle miyoklonus epilepsisi ve ataksi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616187 | E | validated | |
| ICD-10 | G40.3 | NTBT | attributed | validated |
| ICD-11 | 8A61.41 | NTBT | attributed | validated |
| MONDO | 0014521 | E | validated | |
| UMLS | C4015420 | E | validated | |
| MedDRA | 10089657 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:98746Neurological channelopathy of the central nervous system due to a genetic potassium channel defect
rare genetic diseases - ORPHA:98261Progressive myoclonic epilepsy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KCNC1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6233 | ENSG00000129159 | 176258 | 11p15.1 | potassium voltage-gated channel subfamily C member 1 | 25401298[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 13 cases | Worldwide | Case(s) | Validated | 25401298[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25401298[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/435438
- This record as JSON: /data/d/435438.json