Pediatric Epilepsy Genetics What to Expect

Those children with unexplained drug-resistant epilepsy who are seeking genetic testing can come to the clinic for a blood or other tissue sample test. It typically takes about eight weeks for the test results to return. In some cases, those results identify the cause of the epilepsy and may help guide treatment. Patients and their families then work with epileptologists and others on the clinic team, depending on the nature of the identified genes, to help map the best course forward.

Children with already identified mutations may go straight to the consultation phase of the clinic’s service. In some cases, the faculty may be able to suggest medical or dietary therapy based on existing test results. In others, extensive genetic testing may be ordered to look deeper into the roots of a child’s epilepsy.

In other cases, even when genetic variations are found, their role in the child’s symptoms may be unclear. This is where the clinic team’s multidisciplinary expertise is engaged to examine the genetic results in the context of the individual patient’s symptoms, family history and current circumstances.

In every case, when the relevant test results are in and the best possible analysis is achieved, the team sits down with parents and together they navigate the best path forward for the patient.