Genetics of Epilepsy

Identification of the epilepsy etiology can play a critical role in the treatment and prognosis of the patient. Given the advances in molecular techniques, there are more potential causative variants being identified in patients with epilepsy. It is important to note that a particular gene variant can be associated with one or more epileptic syndromes and that specific electroclinical syndromes can be seen secondary to a number of genetic variants. The yield of genetic testing in early-onset epilepsies is very high, both with and without underlying malformations of cortical development. There are several options available for genetic testing. The choice of test may depend on several factors including patient presentation, epilepsy phenotype, acuity and severity of the clinical situation, and cost. Increasingly, genetic disorders may lead to precision medicine, informing choice of optimal medication or identifying therapies that will worsen seizures.