progressive myoclonus epilepsy 9

Term ID

DOID:0111450

Synonyms

• EMP9
• PME type 9
• progressive myoclonic epilepsy due to LMNB2 deficiency
• progressive myoclonus epilepsy type 9

Definition

A progressive myoclonus epilepsy characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the LMNB2 gene on chromosome 19p13.3. https://www.ncbi.nlm.nih.gov/pubmed/25954030

References

• OMIM:616540
• ORDO:457265

Ontology

Human Disease   ( DOID:0111450 )