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Excerpted from the GeneReview: Progressive Myoclonic Epilepsy Type 1
Progressive myoclonic epilepsy type 1(EPM1) is a neurodegenerative disorder characterized by onset from age six to 15 years, stimulus-sensitive myoclonus, and tonic-clonic epileptic seizures. Some years after the onset, ataxia, incoordination, intentional tremor, and dysarthria develop. Individuals with EPM1 are cognitively mostly within the normal range, but show emotional lability and depression. The epileptic seizures are usually well controlled by antiseizure medications, but the myoclonic jerks are progressive, action activated, and treatment resistant, and can be severely disabling.

Genes See tests for all associated and related genes

  • Also known as: CPI-B, CST6, EPM1, EPM1A, PME, STFB, ULD, CSTB
    Summary: cystatin B

Clinical features


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