Epilepsy & Seizures
Progressive myoclonic epilepsy type 1
Progressive myoclonic epilepsy type 1 (EPM1) is a progressive myoclonus epilepsy caused by pathogenic, autosomal recessive variants in the cystatin B (CSTB) gene mapped to chromosome 21q22.3. It manifests with action and stimulus-sensitive myoclonus, generalized tonic-clonic seizures, mild and slowly progressive cerebellar ataxia, and cognitive deficits. Diagnosis can be confirmed by appropriate molecular genetic testing.
Feb. 23, 2021