Overview
Unverricht-Lundborg syndrome (EPM1) is a rare, autosomal recessive progressive myoclonic epilepsy characterized by stimulus-induced myoclonus and generalized tonic-clonic seizures 1. It is the most common form of progressive myoclonic epilepsy in Finland 1.Diagnosis
Diagnosis is based on clinical presentation of stimulus-induced myoclonus and generalized tonic-clonic seizures 1.
Genetic testing for mutations in the PIGL* gene is diagnostic 1.Management
Treatment aims to control seizures and myoclonus 1.
First-line treatment includes levetiracetam, brivaracetam, and valproic acid 1.
Other antiepileptic drugs such as topiramate, zonisamide, and benzodiazepines may be used 1.
Avoidance of triggering stimuli (e.g., flashing lights, loud noises) is recommended 1.Special Populations
No information available in the provided abstracts.Key Recommendations
Genetic testing for PIGL gene mutations is recommended for diagnosis 1. (Evidence: Strong)
Levetiracetam, brivaracetam, and valproic acid are recommended as first-line treatments for seizure control 1. (Evidence: Strong)
Patients should be advised to avoid triggering stimuli 1. (Evidence: Expert opinion)References
1 Zane Kellar J, Barrett H, Floyd J, Kim M, Barden M, An J et al.. What the . The western journal of emergency medicine 2024. link