Pauline Samia

Global Epidemiology of Neonatal and Infantile-Onset Epilepsies and Epilepsy Syndromes (GENIE)

Importance Despite the profound impact of neonatal and infantile-onset epilepsies on neurodevelopmental outcomes and mortality, consolidated global epidemiological evidence remains lacking. Objectives To estimate the global incidence and prevalence of neonatal and infantile-onset...

Utility of Face2Gene’s DeepGestalt and D-Score applications in paediatric neurodevelopmental disorders in South Africa

Abstract Face2Gene is a clinical tool that leverages facial features to aid genetic diagnosis. The DeepGestalt application suggests potential diagnoses based on facial similarity, while the D-Score evaluates likelihood of an individual having dysmorphic features suggestive of a p...