B4182 - Neurodevelopmental characteristics of children with genetic risk for epilepsy - 31/10/2022

B number: 
B4182
Principal applicant name: 
Doretta Caramaschi | University of Exeter (United Kingdom)
Co-applicants: 
Dr James Hodge, Dr Gemma Sharp, Rosie Walker, Mr Alexandros Primikiris
Title of project: 
Neurodevelopmental characteristics of children with genetic risk for epilepsy
Proposal summary: 

Epilepsy is the most common primary neurological disorder worldwide, with 10% of people experiencing a seizure during their life. Seizures often occur in combination with other neurological or behavioural traits indicating altered brain development. Seizures might also themselves negatively impact the neurocognitive development in early life. Understanding the links between epilepsy and other neurodevelopmental and neurological conditions is key to understanding the mechanism and impact of the disease. Large genome-wide association studies of epilepsy have found specific genes that are linked to brain function and might therefore explain the vulnerability of specific brain circuits in people experiencing seizures. It is not clear though how these genetic predispositions to epilepsy would affect other brain properties, for instance neurocognitive development. Therefore, we propose to investigate the molecular, neurodevelopmental and cognitive outcomes of having a genetic predisposition for epilepsy in the ALSPAC children.

Impact of research: 
This work will generate preliminary data to inform later projects aimed at understanding epilepsy and its co-occurring conditions.
Date proposal received: 
Wednesday, 26 October, 2022
Date proposal approved: 
Monday, 31 October, 2022
Keywords: 
Genetic epidemiology (including association studies and mendelian randomisation), Epilepsy, Statistical methods, Development, Epigenetics, Genetic epidemiology, Genomics, Intelligence - memory, Neurology, Speech and language, Statistical methods