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Epidemiology
The aim is to characterise disabling neurological disease using large population-based studies. Current studies investigate cerebrovascular disease, convulsive status epilepticus, epilepsy beginning in infancy and demyelinating disease.
Pathogenesis
There are several strands to the pathogenesis strategy in the unit: i) study of the molecular basis of rare neurological disease, as well as interactions with environment, particularly with respect to early onset epilepsies, movement disorders, neurodegenerative, neurotransmitter and complex cerebrovascular disorders; ii) use of imaging tools to understand brain injury associated with convulsive status epilepticus, early onset epilepsy, sickle cell disease and cerebrovascular disorders; iii) use of model systems including cell culture (e.g iPSC), fly models and rodent models to study mechanisms of movement disorders, seizures and comorbidities associated with epilepsy
Outcomes
We aim to evaluate outcome in situations where brain injury has been acquired e.g. early onset epilepsy, convulsive status epilepticus, cerebrovascular disease, particularly stroke and that secondary to sickle cell disease, and demyelinating disease (e.g. multiple sclerosis). Researchers are evaluating the long term neural and behavioural correlates in children with visual impairment. We aim to continue our central role in the assessment of the benefits of the national Children's Epilepsy Surgery Service and the nationally commissioned service for Vein of Galen malformation. We are also investigating the relationship between biomarkers (radiological, genetic) of childhood cerebrovascular disorders and outcome.
Novel Treatments and Other Interventions
Novel treatments and other intervention: We seek to develop and assess treatments, specifically aetiologically driven, in the treatment of children with neurological disease. This includes improved assessment of children for epilepsy surgery, therapies for the treatment of neonatal seizures and early onset epilepsy, as well as targeted therapy in conditions such as Tuberous Sclerosis and Demyelinating disease. We aim to evaluate the role of interventions in sickle cell disease in reducing brain damage on MRI and improving neurocognitive outcome in this population. Development of a gene therapy approach in the treatment of infantile Parkinsonism, and ultimately across other rare neurological disorders. To determine the role of early intervention in children with severe visual impairment.
