Diagnostic and therapeutic approach to drug-resistant juvenile myoclonic epilepsy

ABSTRACT

Introduction

Juvenile myoclonic epilepsy (JME), also known as Janz syndrome, is a common form of generalized epilepsy of presumed genetic origin representing up to 10% of all epilepsy cases. Despite adequate anti-seizure medication (ASM) treatment, seizures persist in one-third of JME patients.

Areas covered

A literature search was conducted using Pubmed search on the topics of drug-resistant JME.

Expert Opinion

About 30% of JME patients are drug-resistant. Valproate (VPA) is considered the first-choice drug. In women of childbearing potential, levetiracetam (LEV) should represent the first-choice treatment. Alternative monotherapy or add-on therapy should be considered in subjects with resistant seizures after the exclusion of pseudo-drug resistance. The choice of the add-on ASM depends on the predominant seizure type. In subjects with persistent bilateral tonic-clonic seizures, LEV or lamotrigine should be firstly considered. In patients with difficult-to-treat myoclonic seizures, clonazepam or LEV are recommended. In case of persistent absences, ethosuximide should be considered. With appropriate selection and safeguards in place, VPA should remain available as an option in women of childbearing potential whose seizures are resistant to other treatments.

KEYWORDS:

• Idiopathic generalized epilepsy
• absences
• janz syndrome
• tonic-clonic seizures
• valproic acid

Article highlights

• JME is considered a pharmaco-responsive epilepsy syndrome. However, about 30% of subjects do not adequately respond to treatment.

• Clinical risk factors for poor outcome of JME are the presence of all three seizure types and psychiatric comorbidities.

• A shorter duration of epilepsy until seizure freedom is significantly associated with a favorable long-term outcome.

• VPA is considered the first-choice drug in men with JME. LEV is the first-choice drug in women of childbearing age.

• The choice of alternative ASM depends on gender and predominant seizure type.

Declaration of interest

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Reviewer disclosures

Peer reviewers on this manuscript have no relevant financial or other relationships to disclose.

Additional information

Funding

This paper was not funded.