Progressive myoclonic epilepsy type 7

Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.

Start free with Eleplan

Progressive myoclonic epilepsy type 7

ORPHA:435438Disease

Also called 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

What it is

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.

Key facts

Prevalence
<1 / 1 000 000
Age of onset
Childhood
Inheritance
Autosomal dominant
Classified as
Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Gene

KCNC1Disease-causing germline mutation(s) (loss of function)

ICD-10 codes

G40.3filed under a broader ICD-10 category — shared with 22 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Benefit programs to look at

Programs whose eligibility touches the same ICD-10 categories. Eligibility is decided by the administering agency, never by this page.

Cross-references

MEDDRA 10089657MONDO 0014521OMIM 616187UMLS C4015420

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

Powered by Eleplan

A rare diagnosis is just the start. Eleplan keeps the whole care plan in one place.

Diagnoses, medications, documents, appointments, and the whole care team — organized and always in sync, so you are not retelling the same story to every new specialist. With Ellie, your AI care assistant, on top of it. Free to start.