Version: 8.0.0
Date: Tue Jan 28 2025
progressive myoclonus epilepsy 10
DOID:0111445
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

progressive myoclonus epilepsy 10

Definition
A progressive myoclonus epilepsy characterized by onset of progressive myoclonus, ataxia, spasticity, dysarthria, and cognitive decline in the first decade of life that has_material_basis_in homozygous or compoud heterozygous mutation in the PRDM8 gene on chromosome 4q21.21.
Synonyms
  • early-onset Lafora body disease
  • EPM10
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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      Associated Models

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