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

• OMIM:616640
• ORDO:324290

Ontology

Human Disease   ( DOID:0111445 )