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New Paper: Incorporating epilepsy genetics into clinical practice: a 360°evaluation

Epilepsy Genetics

Professor Deb Pal runs the paediatric epilepsy genetics service together with his colleagues Stephanie Oates and Shan Tang. They have recently published a paper in Nature Reviews: Genomic Medicine evaluating the diagnostic yield and clinical impact of their service since its inception in 2015.

Using next-generation sequencing panels, they were able to identify a causative gene mutation in 34% of children with onset of epilepsy <2y, in a world-leading turnaround time of 21 days. A genetic diagnosis can be important for management and prognosis as well as providing information on recurrence risks, and referrers and families rated the service highly.

For neonates diagnosed with epilepsy, introducing gene panel testing earlier in the diagnostic pathway could significantly reduce costs for the health service, as well as shorten the diagnostic odyssey for families.

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