How have the recent updated epilepsy classifications impacted on diagnosis and treatment?

ABSTRACT

Introduction

Epilepsies are a diverse group of disorders which differ regarding prognosis for seizure control and associated comorbidities. Accurate classification is critical to choose the highest yield investigations and best therapeutic options and to provide the most accurate prognoses regarding the expected degree of seizure control, possible remission, and risk of associated comorbidities to patients and their families. This article reviews the recent updates in epilepsy classification to illustrate how accurate classification impacts care for persons with epilepsy.

Areas Covered

The authors discuss the ILAE 2017 Classification of the Epilepsies along with the modification of the classification for neonatal seizures and epilepsies. They also discuss the ILAE position papers on Epilepsy syndromes in neonates and infants and children of variable age and the Idiopathic Generalized Epilepsies.

Expert opinion

Accurate epilepsy classification allows selection of the highest yield investigations, choice of optimal therapies, and accurate prognostication of seizures (likelihood of response to antiseizure treatments and likelihood of remission with age), as well as comorbidities (likelihood, type, and severity). As we move into the era of disease modifying therapy, early accurate identification of underlying causes with timely introduction of specific treatments will be crucial to lessen the severity of epilepsy, with improved seizure control and attenuation of associated comorbidities.

KEYWORDS:

• Epilepsy
• seizure
• epilepsy syndrome
• etiology
• comorbidities

Article highlights

• The 2017 ILAE Classification of the Epilepsies provides a framework to enhance precision diagnosis in order to choose the optimal therapy to maximize seizure control and minimize comorbidities.

• Epilepsy syndromes are identified in over half of infants with new onset epilepsy but are less common with increased age. Syndrome identification allows targeted investigations, guides therapy, and informs accurate prognosis.

• Advances in genetic testing and neuroimaging have greatly enhanced our ability to define a specific etiology in many persons with epilepsy. Identification of a specific etiology may allow use of a precision therapy such as surgery for specific structural lesions or a targeted medication for certain genetic or metabolic disorders.

• Disease modifying therapies such as gene therapies or antisense oligonucleotides are on the horizon for many monogenic epilepsies. These therapies will likely improve both comorbidities and seizures and will likely be most effective if initiated early in the course. Thus, prompt recognition and diagnosis will be key.

• Comorbidities are important symptoms of epilepsy that are present in the majority of patients. These must be identified and managed to maximize quality of life for persons with epilepsy and their family.

Declaration of interest

E. Wirrell has received honoraria for educational symposia, advisory boards and/or consultancy works from CME Outfitters, Medscape Education, NeurologyLive, Novus Medical Education, Abbott, Beacon Biomedical, Acadia, Biohaven, Eisai, GRIN, Neurocrine, Longboard, and Encoded Therapeutics. Her institution has supported clinical trials for Stoke Therapeutics, Marinus Pharmaceuticals, UCB Pharma, SK Lifesciences, and Takeda. K. Riney has received honoraria for educational symposia, advisory boards, and/or consultancy work from Eisai, LivaNova, Medlink Neurology, Novartis, and UCB Pharma. Her institution has supported clinical trials for Biogen Idec Research Ltd., Dermatology Specialty Limited Partnership (DSLP)/AFT Pharmaceuticals, Eisai Inc., Epigenyx Therapeutics Inc., GW Research Ltd, Janssen-Cilag, Longboard Pharmaceuticals, Marinus Pharmaceuticals Inc., Medicure International Inc., LivaNova, Neurocrine Biosciences Inc., Noema Pharma, Novartis, SK Lifesciences Inc., Takeda Pharmaceutical Company Limited, UCB Australia Ltd., UCB Pharma, and Zogenix. N Specchio has served on scientific advisory boards for GW Pharma, Biomarin, Arvelle, Marinus, and Takeda and has received speaker honoraria from Arvelle, Jazz Pharmaceuticals, Biocodex, UCB Pharma, Zogenix, Takeda, Eisai, Biomarin, Livanova, and Sanofi. They have served as an investigator for Zogenix, Marinus, Biomarin, UCB, Roche, Takeda, GRIN Therapeutics, Jazz Pharmaceuticals, and Livanova. S. Zuberi has received research support from Epilepsy Research UK, Dravet Syndrome UK, Dravet Syndrome Foundation, Encoded Genomics, UCB Pharma, Jazz Pharmaceuticals, Biocodex, Stoke Therapeutics and has received honoraria for educational symposia, advisory boards, and consultancy work from Encoded Genomics, UCB Pharma, and Rapport Therapeutics. The authors have no other 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 apart from those disclosed.

Reviewer disclosures

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

Additional information

Funding

This manuscript was not funded.