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progressive myoclonic epilepsy type 6 | RareConnect | RareConnect.io

/progressive myoclonus epilepsy

/progressive myoclonic epilepsy type 6

progressive myoclonic epilepsy type 6

Rare Disease

MONDO:0013526

Also Known As

EPM6GOSR2 progressive myoclonic epilepsyGOSR2-related progressive myoclonus ataxiaNorth Sea progressive myoclonus epilepsyPME type 6epilepsy, progressive myoclonic 6epilepsy, progressive myoclonic, type 6progressive myoclonic epilepsy caused by mutation in GOSR2progressive myoclonus epilepsy type 6epilepsy, progressive myoclonic, 6

Definition

Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the GOSR2 gene.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:614018 ↗

Orphanet

Orphanet:280620 ↗

GARD

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