Current treatment options for familial adult myoclonus epilepsy

Author:

Coppola Antonietta1ORCID,Dubbioso Raffaele1ORCID,Cuccurullo Claudia1,Licchetta Laura2ORCID,Carreno Mar345,Hirsch Edouard6ORCID,Bilo Leonilda1

Affiliation:

1. Department of Neuroscience, Reproductive Sciences, and Odontostomatology Federico II University of Naples Naples Italy

2. IRCCS Istituto delle Scienze Neurologiche di Bologna full member of the European Reference Network EpiCARE Bologna Bologna Italy

3. Clinical Institute of Neurosciences Hospital Clinic of Barcelona Barcelona Spain

4. Epilepsy Unit Hospital Clinic of Barcelona Barcelona Spain

5. Biomedical Research Institute August Pi i Sunyer Hospital Clinic of Barcelona Barcelona Spain

6. Epilepsy Unit “Françis Rohmer,” French Centre de référence des Épilepsies Rares (CréER), Federation Hospitalo Universitaire, Neurology Department Hôpitaux Universitaires de Strasbourg Strasbourg France

Abstract

AbstractFamilial 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. 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 an antimyoclonic effect, such as valproate, levetiracetam, benzodiazepines, and perampanel. However, these medications control seizures well 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 that will be available soon.

Funder

Università degli Studi di Napoli Federico II

Publisher

Wiley

Subject

Neurology (clinical),Neurology

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