Gene Testing Improves Diagnosis of Pediatric Epilepsy
⚠️ Infant dosing/safety: medication and diet decisions for infants require individualized medical guidance.
Source: Brain & development
Summary
This study looked at how effective targeted gene panel testing is for diagnosing epilepsy in children. Researchers analyzed data from 516 pediatric patients who underwent this genetic testing at a specialized medical center between 2021 and 2025. The goal was to see how many patients received a clear genetic diagnosis and to understand the specific genetic features associated with their epilepsy.
The findings showed that about 16% of the children tested received a diagnosis based on genetic results. The most common genes linked to these diagnoses were KCNQ2, SCN1A, CACNA1A, SLC2A1, and SCN2A, which together accounted for nearly half of all cases. Many of the diagnosed patients had their first seizures in infancy, especially within the first year of life. Interestingly, a significant portion of the genetic variants found were new and not previously identified, highlighting the complexity of epilepsy genetics.
This research is important because it shows that genetic testing can help identify the causes of epilepsy in children, which can lead to better treatment options and management strategies. However, the study has limitations, such as being conducted at a single medical center, which may not represent all pediatric epilepsy cases. Additionally, while the findings are promising, more research is needed to fully understand the implications of these genetic discoveries for patient care.
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