Epilepsy of Metabolic Origin: Early Diagnosis Is Crucial to Achieving Better Outcomes

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All relevant financial relationships for anyone with the ability to control the content of this educational activity are listed below and have been mitigated. Others involved in the planning of this activity have no relevant financial relationships with ineligible companies.

Faculty

Emily C. de los Reyes, MD

Pediatric Neurologist
Nationwide Children’s Hospital
Professor of Clinical Pediatrics and Neurology
The Ohio State University College of Medicine
Columbus, Ohio

Disclosures

Emily C. de los Reyes, MD, has disclosed the following relevant financial relationships:
Served as an advisor or consultant for: Amicus; BioMarin Pharmaceutical Inc.; Zogenix
Served as a speaker or a member of a speakers bureau for: Amicus; BioMarin Pharmaceutical Inc.
Received grants for clinical research from: Amicus; BioMarin Pharmaceutical Inc.
Contracted researcher for: Amicus; BioMarin
Royalties: Amicus

Miriam Nickel, MD

Department of Pediatrics
University Medical Center Hamburg-Eppendorf
Hamburg, Germany

Disclosures

Miriam Nickel, MD, has no relevant financial relationships.

Angela Schulz, MD, PhD

Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany

Disclosures

Angela Schulz, MD, PhD, has disclosed the following relevant financial relationships:
Served as an advisor or consultant for: Amicus; BioMarin; Neurogene; RegenxBio; Taysha

Nicola Specchio, MD, PhD

Department of Neurosciences, Neurology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy

Disclosures

Nicola Specchio, MD, PhD, has disclosed no relevant financial relationships.

Raymond Wang, MD

Campbell Foundation Director
Multidisciplinary Lysosomal Disorder Program
Children's Hospital of Orange County
Orange, California, United States

Disclosures

Raymond Wang, MD, has the following relevant financial relationships:
Served as an advisor or consultant for: BioMarin; Denali; Inventiva; M6P Therapeutics; Orphazyme; Sio Gene Therapies; RegenxBio; Takeda
Received grants for clinical research from: BioMarin Pharmaceuticals; Ultragenyx
Stock options from: M6P Therapeutics
Owns stock (privately owned) in: M6P Therapeutics
Owns stock (publicly traded) in: BioMarin; RegenxBio

Editor

Rita Moreira da Silva, PhD, MA, PharmD

Medical Education Director, WebMD Global, LLC

Disclosures

Rita Moreira da Silva, PhD, MA, PharmD, has no relevant financial relationships.

Compliance Reviewer

Susan L. Smith, MN, PhD

Associate Director, Accreditation and Compliance

Disclosures

Susan L. Smith, MN, PhD, has no relevant financial relationships.

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Posted: 30/06/2022

Learners will be better able to use available tools to make an early diagnosis of different epilepsies of metabolic origin.

This activity is intended for a non-US audience of neurologists, pediatricians, and primary care physicians.

Upon completion of this activity, participants will be able to:

Have increased knowledge regarding the
- Importance of early diagnosis in determining whether a patient is experiencing epilepsy of metabolic origin
- Recognizing different clinical subsets that may suggest a metabolic origin for a patient's epilepsy
- Identifying the optimal treatment approach for different types of epilepsy and for different disease stages

Contents of This CPD Activity

All sections of this activity are required for credit.

The importance of Early Diagnosis and Treatment of Genetic Metabolic Epilepsies

Learn about the differential diagnostic features and treatments available for epilepsies of metabolic origin.
Raymond Wang, MD

Diagnostic Tools for Genetic Metabolic Epilepsies

Join this walk-through discussion of a patient case
Emily C. De Los Reyes, MD, and Miriam Nickel, MD

Classic and New Diagnostic Tools in Genetic Metabolic Epilepsies: The Importance of Specialty Referral

Join this discussion about classic and novel tools for the diagnosis of epilepsies of metabolic origin.
Emily C. De Los Reyes, MD, and Miriam Nickel, MD

Differential Diagnosis of Metabolic Epilepsies

How prepared are you to differentiate an epilepsy of metabolic origin from other types of epilepsies?
Nicola Specchio, MD, PhD

Wrap-up: Clinical Cases to Differentiate Metabolic Epilepsies From CLN2 Disease

Join this discussion of differential diagnosis and treatment of CLN2 disease using real-life examples.
Angela Schulz, MD, PhD

Page 1 of 9

The Importance of Early Diagnosis and Treatment of Genetic Metabolic Epilepsies

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Disclaimer

The educational activity presented above may involve simulated case-based scenarios. The patients depicted in these scenarios are fictitious and no association with any actual patient is intended or should be inferred.

The material presented here does not necessarily reflect the views of WebMD Global, LLC or companies that support educational programming on medscape.org. A qualified healthcare professional should be consulted before using any therapeutic product discussed. Readers should verify all information and data before treating patients or employing any therapies described in this educational activity.

Faculty and Disclosures

Faculty

Emily C. de los Reyes, MD

Miriam Nickel, MD

Angela Schulz, MD, PhD

Nicola Specchio, MD, PhD

Raymond Wang, MD