European Medical Journal Neurology (Dec 2020)
SEIZURES IN CHILDHOOD: AETIOLOGY, DIAGNOSIS, TREATMENT, AND WHAT THE FUTURE MAY HOLD
Abstract
Seizures are one of the most common medical problems affecting children, and epilepsy is the most common chronic neurological condition in children. Childhood epilepsy syndromes include a wide spectrum of disorders ranging from benign to life threatening. While there are many known epilepsy syndromes, there are many factors, which may lead to the development of seizures in children including infection, traumatic brain injury, or structural abnormality. Up to 40% of childhood epilepsies are thought to have some component of genetic involvement. New genes, mutations, and variants involved in epilepsy are being identified continuously. Most of the genes which have been identified encode for neurotransmitter receptors, ion channels, molecules involved in intracellular signalling, or proteins involved in synaptic structure. As new candidate genes in epilepsy are identified, new technologies in genetic testing are becoming available and more accessible, making the molecular diagnosis of epilepsy increasingly relevant to researchers, physicians, patients, and their families. The standard of care and first-line treatment is the use of antiepileptic drugs. For those patients with medication-refractory epilepsy other available therapies include ketogenic diet, vagal nerve stimulator, or epilepsy surgery. The newest advancement in the treatment of paediatric epilepsies is based around the idea of targeted therapy. These therapies incorporate pharmacogenomics, the principle that an individual’s genetic background affects their response to specific drugs, as well as precision medicine, which identifies treatments for the damaged products resulting from specific gene mutations. Many of these therapies are still under research or in trial; however, there is much promise for the future of targeted medications.
