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Updated: Jun 10, 2026

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
Published on: June 6, 2025
Genetic evaluation and counseling for epilepsy
Deb K Pal1, Amanda W Pong, Wendy K Chung
1King's College London, Institute of Psychiatry, De Crespigny Park, London, SE5 8AF, UK. dep.pal@kcl.ac.uk
Abstract:
The contribution of genetics to both rare and common epilepsies is rapidly being elucidated, and neurologists are routinely considering genetic testing in the work-up of several epilepsy syndromes of both known and unknown cause. Simultaneously, advances in molecular technology foreshadow additional discoveries in epilepsy etiology, implying a greater role than ever before for genetics in the epilepsy clinic. Genetic testing can be valuable not only for diagnosis but also for guiding treatment and for informing reproductive choices. In this Review, we outline the principles of genetic evaluation and counseling, and describe how to interpret genetic test results for epilepsy in the following five common clinical scenarios: Dravet syndrome, infantile spasms, epilepsy with cortical malformation, epilepsy with mental retardation, and idiopathic epilepsy syndromes. We differentiate clinical situations in which genetic testing is of high and low utility, and predict future areas for the application of genetics in epilepsy practice.
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