Background

Advances in our understanding of epilepsy genetics are accelerating year by year, helping to unravel the underlying causes of many forms of epilepsy — including complex presentations such as those associated with intellectual disability or developmental delays. With the wider availability of next-generation sequencing technologies like whole exome and whole genome sequencing, genetic testing is now moving from specialist research environments into routine clinical care. This shift has the potential to improve diagnosis, support decision-making, and, in some cases, guide treatment — particularly in severe epilepsies that begin early in life.

Research

This review offers a practical and timely overview for clinicians who are increasingly encountering genetic testing in their work. It outlines key considerations for epilepsy specialists, neurologists, nurse practitioners, and others involved in patient care, and provides guidance on when to consider testing, what type of test to order, and how to interpret the results. The authors explore different testing approaches — from targeted gene panels to broader exome and genome sequencing — and discuss when each might be most useful. They also highlight the importance of interpreting results within a clinical context, especially when dealing with findings like variants of uncertain significance, which don’t always offer straightforward answers.

Potential Impact

By presenting complex concepts in a clear and accessible way, this paper supports clinicians in making informed decisions around genetic testing for epilepsy. It emphasises the value of working as part of a multidisciplinary team, particularly when interpreting challenging or inconclusive results. While there are still limitations in the availability of precision treatments, especially for rare or newly discovered genetic epilepsies, the paper highlights where progress is being made — including therapies for conditions like Dravet syndrome and tuberous sclerosis complex. As genetic knowledge continues to grow, resources like this will be increasingly important in helping to integrate genomics into routine epilepsy care.