/epilepsy, progressive myoclonic, 1B

epilepsy, progressive myoclonic, 1B

Rare Disease

MONDO:0012904

Also Known As

PRICKLE1 progressive myoclonic epilepsyepilepsy, progressive myoclonic 1Bepilepsy, progressive myoclonic, 1Bepilepsy, progressive myoclonic, type 1Bprogressive myoclonic epilepsy caused by mutation in PRICKLE1EPM1B

Definition

Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the PRICKLE1 gene.

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Associated Genes

PRICKLE1 ↗

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

External Resources

OMIM

OMIM:612437 ↗

GARD

GARD:15556 ↗

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