Incidence phenotypes and outcomes of epilepsy under 3 years of age

Presented by Joseph D Symonds

Dr Joseph Symonds graduated from the University of Dundee in 2008 and also has a BSc degree in International Health from the University of Leeds (2007). He has been a trainee in paediatrics in Aberdeen, Inverness and Glasgow and is currently registered with the University of Glasgow as a PhD student. His major research interest is in the genetics of childhood onset epilepsies.

His current PhD thesis focusses on the clinical utility of genetic diagnostic techniques - including Sanger sequencing, Gene Panel testing, Chromosomal Microarray and Whole Genome Sequencing - for identifying underlying causes of epilepsy and guiding management. He has developed a specific interest in the epilepsy caused by truncation variants in the SMC1A gene and he has several ongoing projects investigating this gene. He receives research funding support from Glasgow Children's Hospital Charity and Tenovus Scotland.