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Genetic testing is increasingly relevant in drug-resistant epilepsy because treatment response can differ by underlying cause. This 2024 retrospective cohort study compared ketogenic diet therapy in patients with drug-resistant epilepsy with and without identified genetic causes. The cohort included children with a range of genetic epilepsies and developmental and epileptic encephalopathies. Seizure frequency fell in both groups after ketogenic diet therapy, but the reduction was greater among patients with identified genetic etiologies. The study also found that patients with non-developmental-epileptic-encephalopathy genetic conditions appeared to derive greater benefit than those with developmental epileptic encephalopathy. The authors therefore suggest that genetic information may help clinicians identify patients for whom dietary therapy should be introduced earlier. The findings should be interpreted cautiously because the study was retrospective, treatment adherence differed across participants, and there was no randomised comparison group. Still, the study fits an important IANCON theme: moving from syndrome-based treatment toward biologically informed epilepsy care. For HCPs, genetic testing is not simply diagnostic; it may increasingly help shape treatment selection, counselling and expectations when drug-resistant epilepsy is being managed.
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Genetic testing is increasingly relevant in drug-resistant epilepsy because treatment response can differ by underlying cause. This 2024 retrospective cohort study compared ketogenic diet therapy in patients with drug-resistant epilepsy with and without identified genetic causes. The cohort included children with a range of genetic epilepsies and developmental and epileptic encephalopathies. Seizure frequency fell in both groups after ketogenic diet therapy, but the reduction was greater among patients with identified genetic etiologies. The study also found that patients with non-developmental-epileptic-encephalopathy genetic conditions appeared to derive greater benefit than those with developmental epileptic encephalopathy. The authors therefore suggest that genetic information may help clinicians identify patients for whom dietary therapy should be introduced earlier. The findings should be interpreted cautiously because the study was retrospective, treatment adherence differed across participants, and there was no randomised comparison group. Still, the study fits an important IANCON theme: moving from syndrome-based treatment toward biologically informed epilepsy care. For HCPs, genetic testing is not simply diagnostic; it may increasingly help shape treatment selection, counselling and expectations when drug-resistant epilepsy is being managed.
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