Disease

Lafora Disease

About the Disease
Myoclonic Epilepsy of Lafora, also known as lafora disease, is related to progressive myoclonus epilepsy 10 and myoclonic epilepsy of unverricht and lundborg, and has symptoms including myoclonus, hallucinations, visual and unspecified visual loss. An important gene associated with Myoclonic Epilepsy of Lafora is EPM2A (EPM2A Glucan Phosphatase, Laforin), and among its related pathways/superpathways are Metabolism and Disease. The drugs Insulin and Insulin, Globin Zinc have been mentioned in the context of this disorder. Affiliated tissues include liver, skeletal muscle and heart, and related phenotypes are lafora bodies and spasticity

Common Targets
G3630 | EPM2A | SGK1 | PDE5A | NHLRC1 | GAA | PPP1R3C | GYS1 | Voltage-Gated Calcium Channel alpha-2/delta (nonspecified subtype) | AMP-activated protein kinase (AMPK)

疾病靶点研报
Lafora Disease

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