Progressive Myoclonus Epilepsy 4 (AMRF)

Alias:

Action Myoclonus-Renal Failure Syndrome

Myoclonus-Nephropathy Syndrome

Epm4

Amrf

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Progressive Myoclonus Epilepsy 4, also known as action myoclonus-renal failure syndrome, is related to myoclonic epilepsy of unverricht and lundborg and gaucher's disease. An important gene associated with Progressive Myoclonus Epilepsy 4 is SCARB2 (Scavenger Receptor Class B Member 2), and among its related pathways/superpathways is Degradation pathway of sphingolipids, including diseases. Related phenotypes are nervous system and cardiovascular system

Related ID：

MALACARDS：PRG140

MESH：D020191