Genetic Testing in Pediatric Epilepsy

Abstract

With the advent of next generation sequencing technology there has been a spurt of papers on genetics in epilepsy in children. Genetic testing has now become an essential part of clinical practice in epilepsy. It helps in reaching an etiological diagnosis, providing prognostic information, guiding therapy precisely indicated for the patient and avoiding drugs that may worsen the seizures. Once the pathogenic variant has been found, this enables determining and counseling the risk of recurrence to the patient and other relatives at risk. It also makes available different reproductive options such as prenatal diagnosis or pre-implantation diagnosis. The authors describe the benefits, the clinical situations that require genetic testing, the types of genetic tests that are available, and how to choose the appropriate test and their likely yields. Genetic counseling, both pre- and post-test that should be provided is described briefly. Two useful tables are included that depict the therapy for variants in different epilepsy genes.

Keywords: Benefits; Epilepsy genes; Genetic counseling; Genetic testing technology; Indications; Yield.