Publications by authors named "Sarah Mulhern"
Lancet Neurol
September 2023
Article Synopsis
- Most neonatal and infantile-onset epilepsies are thought to have genetic causes, and early genetic testing could help improve treatment and outcomes for affected infants.
- The Gene-STEPS study involved four pediatric centers across Australia, Canada, the UK, and the USA, where researchers collected blood samples and clinical data from infants under 12 months old who had new-onset epilepsy or complex febrile seizures.
- Out of 100 enrolled infants, 43 (43%) received genetic diagnoses through rapid genome sequencing, showing the effectiveness of this method in identifying underlying genetic factors.
