Progressive myoclonic epilepsy type 7

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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

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version December 2023

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Progressive myoclonic epilepsy type 7?

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Advocacy Organizations

Pediatric Epilepsy Research Consortium

The Pediatric Epilepsy Research Consortium (PERC) is a group of US pediatric epilepsy centers, researchers and professionals in field of epilepsy whose goal is to provide a network and infrastructure to facilitate collegial, collaborative practice-changing research that will provide answers needed to improve the care of children with epilepsy.

Clinical Trials

For a list of clinical trials in this disease area, please click here.