Abstract
Learning disability (more widely known as intellectual disability) is a neurodevelopmental disorder characterised by deficits in intellectual and adaptive functioning. The aetiology of learning disorders encompasses an interaction of multiple factors, including genetic abnormalities. However, the exact cause of up to 70% of cases remains unknown. people with learning disability (pWLD) are also at a higher risk of having epilepsy, affecting up to 26% of this population. To better understand the genetics and pathophysiology of epilepsy in pWLD, a scoping review was carried out to explore recent evidence and present what is currently known about the topic. A range of methods were used to interrogate the literature in order to better understand the mechanisms of genetic variants known to cause epilepsy and learning disability, including articles presenting data by techniques including human genome sequencing, neuroimaging and mouse model studies. It was found that this condition is mostly explained by de novo mutations in specific genes and that the mechanisms involved largely affects neuronal signalling, brain structure and development. The efficacy of anti-epileptic drug treatments in this population is highly variable. Understanding the genetics and pathophysiology of epilepsy in pWLD is useful for providing an avenue for future research, individualised treatments and better insights into the condition for caregivers and clinicians alike.