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Genetics

A variety of genes have been implicated in the cause of myoclonus, particularly those cases that include myoclonus as one feature of a disorder.

Myoclonus dystonia

  • 7q21—DYT11, SCGE
  • 18p11—DYT15

Myoclonic epilepsy

  • 8q24—Familial adult myoclonic epilepsy
  • G8363A mutation—MERRF
  • 21q22.3—CSTB gene—Unverricht-Lundborg disease
  • 6p24—EPM2A, EPM2B—Lafora progressive myoclonic epilepsy

Other

  • PRNP H187R—Hereditary Creutzfeldt-Jakob disease
  • 3242A>G—MELAS
  • 22q11—DiGeorge syndrome