BioMarin Symposium | The urgency of diagnosing paediatric epilepsy in the era of precision medicine

Many early-onset epilepsies have a genetic aetiology. Diagnosing these patients using the traditional diagnostic workup can be challenging as they often present with complex, non-specific signs and symptoms. Broad genetic testing methods can simultaneously test for several disorders and are becoming more common in clinical practice. Genetic testing has the potential to reduce the diagnostic delay, which is especially vital for rapidly progressing neurodegenerative disorders such as TPP1 deficiency (CLN2 disease). Additionally, it may prevent further unnecessary testing, facilitate genetic counselling or family planning, and inform clinical management and seizure control. Indeed, certain genes related to particular paediatric epilepsy disorders are actionable and prompt identification of aetiology may expedite disease-specific management for optimal patient outcomes. In this symposium, CLN2 disease will be used as an in-depth case study discussing the role of genetic testing in paediatric epilepsies and showing the clinical importance of early diagnosis to provide the most appropriate patient management and care. Illustrative patient video material and outcomes of long-term disease-specific management will be discussed. The symposium is sponsored and funded by BioMarin and is intended for Healthcare Professionals only. EU-BRIN-00175 – September 2022

Talks
Ebru Arhan MD, PhD, Gazi University, Ankara, Turkey
2.5-year-old   with seizures and language delay – what do you suspect?
Nicola Specchio MD, PhD, Bambino Gesù Children's Hospital, Rome, Italy
The importance of early diagnosis: Long-term data of   targeted enzyme replacement therapy for CLN2 disease   
Pasquale Striano MD, PhD, Gaslini Children’s Hospital, Genoa, Italy
Aetiology is   key: Genetic testing as a tool to expedite diagnosis in paediatric epilepsy    

Q&A    Faculty & audience
Concluding   remarks 
Ebru Arhan MD, PhD, Gazi University, Ankara, Turkey