Research overview
Epilepsy is a common neurological disorder that usually starts in childhood and is often complicated by impairments in cognition, communication, movement or behaviour. The overall goal of our lab is to understand the causes and mechanisms of morbidity in childhood epilepsy and develop innovative solutions for assessment, patient stratification and intervention. Most of the epilepsies arising in the first two years of life have a monogenic origin involving neurotransmitter, ion-channel, synaptic, and chromatin remodeling gene classes, which we identify through our epilepsy genetics clinical service - the first in the UK. Later onset epilepsies have a complex inheritance, which has been more challenging to elucidate. In our multidisciplinary lab we study the phenotype, endophenotypes, neuroimaging of several later childhood epilepsies including rolandic epilepsy, juvenile myoclonic epilepsy, myoclonic-astatic epilepsy and electrical status in slow-wave sleep. We are investigating genetic aetiology and mechanism using linkage analysis, GWAS, exome, whole genome and gene expression and cellular biology methods collaborating with international consortia and industry partners. We also study the genetics of comorbidities such as reading disability, and novel ways to assess overnight memory consolidation (disrupted by epileptiform discharges) in school-aged children. Sleep fragmentation is a potent trigger for seizures among susceptible children and a new randomised controlled trial will compare the impact of antiepileptic drugs vs sleep behaviour modification on global outcomes.
