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Human Disease

progressive myoclonus epilepsy 10

Term ID
DOID:0111445
Synonyms
  • early-onset Lafora body disease
  • EPM10
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. https://www.ncbi.nlm.nih.gov/pubmed/22961547
References
Ontology
Human Disease   ( DOID:0111445 )
Relationships
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Genes Involved
Zebrafish Models