LAUSR

Familial Adult Myoclonus Epilepsy (FAME) is a genetic condition characterized by the occurrence of cortical tremor, myoclonus and epilepsy. To date, there is neither a curative nor a preventive treatment for FAME. Indeed, clinical management is essentially symptomatic and based on antiseizure medications (ASMs). The choice of the correct therapeutic option is limited to ASMs that have both an antiseizure and anti-myoclonic effect such as valproate (VPA), levetiracetam (LEV), benzodiazepines (BDZs) and perampanel (PER). However, these medications well control seizures while having a limited effect on myoclonus and cortical tremor. In addition, many ASMs including sodium channel blockers and gabapentin are contraindicated in this condition. The ideal therapeutic option would be a precision treatment able to revert the genetic defect underlying it. Nevertheless, this does not seem to be an option available shortly.