Benign adult familial myoclonic epilepsy

Benign adult familial myoclonic epilepsy is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks, and seizures with no signs of early dementia. Worldwide prevalence is unknown, but is estimated to be less than 1/35,000. It is transmitted autosomal dominantly, and penetrance is high. This is a well-delineated disease with remarkable features that clearly distinguish it from other forms of myoclonic epilepsies. Genetic studies of the families show heterogeneity, and different susceptible chromosomal loci have been identified. Diagnosis is based on clinical and electrophysiological findings. It must be differentiated from epilepsy syndromes with prominent myoclonus features. Valproate, levetiracetam, and benzodiazepines are the most beneficial treatments.