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21st June 2023
Aetiology of epilepsy
Definitions
The National Institute of Health and Care Excellence (NICE) defines a seizure as a transient acute change in neurological function produced by abnormal excessive or synchronous activity in the brain. Therefore, epilepsy is a predisposition to having recurrent seizures and can only be definitively diagnosed after a person has had two or more seizures.
Causes of Epilepsy
The causes of epilepsy are heterogenous. The table below summarises the main causes of epilepsy:
| Cause | Examples |
|---|---|
| Infectious | This is the commonest aetiology causing epilepsy worldwide. CNS infections can cause secondary epilepsy.
Examples of CNS infections that can cause epilepsy are bacterial meningitis, encephalitis, human immunodeficiency virus (HIV), malaria, toxoplasmosis, cytomegalovirus (CMV), and tuberculosis (TB). |
| Genetic | Chromosomal abnormalities – an abnormal karyotype can lead to neurodevelopmental disorders associated with epilepsy. For example, Angelman syndrome, Down syndrome, Klinefelter syndrome, etc.
Gene abnormalities – can affect the function of enzyme receptors or proteins involved in brain development. |
| Structural | Malformations of cortical development – e.g. tuberous sclerosis, lissencephalopathy
Vascular malformation – e.g. arterio-venous malformation, cerebral angioma Hypoxic-ischaemic – hypoxic-ischaemic encephalopathy or stroke Traumatic brain injury |
| Metabolic | A metabolic abnormality that predisposes one to epilepsy. Examples of this are glucose transporter 1 (GLUT1) deficiency, mitochondrial disorders, peroxisomal disorders, etc. |
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