Deb Pal

deb.pal@kcl.ac.uk

palneurolab

Website

Research Interests

The focus of my Epilepsy and Neurodevelopmental Disorders lab is stratified medicine. We are using deep phenotyping to distinguish prognostic groups in common epilepsies and as a tool for increasing the power of genome-wide association (GWAS) analysis. We collaborate with basic scientists to characterise some of these susceptibility genes. We are also interested in broad outcome measures beyond seizures and developed the first core outcome measure set for children.

Most significant discovery

We discovered BRD2 the first susceptibility gene for a common generalised epilepsy in 2005 then the first susceptibility gene PAX6 for a common focal epilepsy in 2015. We have expanded this work using endophenotypes to show that neurodevelopmental and neuropsychiatric phenotypes in epilepsy share inheritance with these traits in both general and clinical populations.

Educational Interests

Top 4 Publications

“Sex-specific disease modifiers in juvenile myoclonic epilepsy.” doi:https://doi.org/ 10.1038/ s41598-022-06324-2

“SLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsy.” doi: https://doi.org/ 10.1101/2022.04.19.222 73994

“A microRNA binding site in PAX6 is associated with centrotemporal spikes of rolandic epilepsy. doi: 10.1002/acn3.320.

Methods / Expertise

• Linkage, association and sequence analysis in rare and common disorders
• Epilepsy genetics diagnosis and counselling
• Clinical trials and broad outcome measures
• Digital therapeutics
• Mental health