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Developmental epilepsies: diagnosis, genetics, and clinical management

Free
10min
Audio: English

Synopsis

This educational activity reviews the role of genetic testing in the diagnosis and management of Developmental and Epileptic Encephalopathies (DEE). It outlines current indications for genetic testing, including the use of epilepsy gene panels and whole exome sequencing, and examines their diagnostic utility. The programme also explores how genetic findings inform precision treatment approaches, including gene- and pathway targeted therapies, and support clinical decision-making, prognostic counselling, and longer-term care planning in patients with DEE. This activity is supported by UCB. UCB has had no input or editorial control over the content of this activity. This activity is provided by Wiley Medical Education. Disclaimer: Parts of this programme's content were developed using Claude Opus 4.7 (May 2026). All materials were reviewed and approved by the Wiley content strategist team and an external peer reviewer. No clinical material was created with the use of Claude or any other artificial intelligence.

This activity is supported by an independent support grant from Wiley Medical Education

Objectives

To guide learning and facilitate the practical application of the content, this course aims to achieve the following learning objectives:

  • Understand a patient’s unique genetic profile to tailor antiepileptic medications and other therapies to best suit individual needs.
  • Recognize when to seek genetic testing for DEE and respective global guidelines.

Duration

10min

Target audience

Neurology, Pediatrics, General practice

Authors

Prof J. Helen Cross

Prof. J. Helen Cross is The Prince of Wales’s Chair of Childhood Epilepsy and Director of the UCL Great Ormond Street Institute of Child Health. She is also an Honorary Consultant in Paediatric Neurology at Great Ormond Street Hospital and Young Epilepsy, UK. An internationally recognised expert in childhood epilepsy, her research focuses on improving outcomes in early-onset epilepsy, particularly through epilepsy surgery and ketogenic diet therapies. She has held numerous international leadership roles, including President of the International League Against Epilepsy (2021–2025), and currently serves as Clinical Advisor to the UK National Children’s Epilepsy Surgery Service.

Conflicts of interests statement:

The author has received honoraria from Nutricia, Vitaflo, GW Pharma/Jazz Pharmaceuticals, Zogenix/UCB, Biocodex, Servier, Encoded, Stoke Therapeutics, and Ultragenyx for advisory board activities and participation in clinical trials. Some honoraria were paid to the author’s department.

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What you will learn

Module 1: Genetic testing in DEE diagnosis

  • Genetic testing approaches in DEEs
  • Clinical utility and precision management

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