Mondo Description Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the LMNB2 gene.

Uniprot Description An autosomal recessive form of progressive myoclonic epilepsy, a rare disease initially responsive to antiepileptic drugs which over time becomes refractory and can be associated with cognitive decline. EPM9 features include myoclonus, tonic-clonic seizures, ataxia, and psychomotor development.