Why You Need to Consider Genetic Testing of Children with Epilepsy

Genetic testing and counseling for epilepsy are now being incorporated into everyday practice in many parts of the industrialized world. This advance has mainly been driven by rapid discoveries in the etiology of monogenic epilepsies, paired with technological developments in next-generation sequencing (NSG), allowing the parallel and economical testing of multiple target genes.

Several studies on targeted gene panel testing or whole exome sequencing have been reported in the past years, showing that the current diagnostic rate can be as high as 25% to 35%. Furthermore, these studies have shown a clear tendency toward higher positive rates in patients with early onset epilepsies as well as in cases with severe phenotypes.

NGS-based genetic testing has been shown to have a high clinical utility in children with early onset epilepsy, in drug-resistant cases, or familial cases. The impacts are numerous and range from providing the families with a definite diagnosis, to risk counseling and treatment change. In addition, an increasing number of targeted clinical trials has been made possible as new experimental therapies become available.