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AANS Neurosurgeon | Volume 25, Number 4, 2016

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Genetic Testing Helps Detect Cause of Early Life Epilepsy

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Study supports routine genetic testing for initial evaluation of seizures as the first step toward precision medicine and improved outcomes

 

A study supports the use of genetic testing, especially with sequencing, as first-line diagnostic method for young children with seizures. Specific genetic factors were found to be the cause of epilepsy in 40 percent of patients evaluated for first presentation with seizures. Genetic testing also yielded a diagnosis in 25 percent of children who had epilepsy with an otherwise unknown cause.

“This could be a game-changer in epilepsy diagnosis and could make precision medicine part of standard clinical practice,” says lead author Anne T. Berg, PhD, from Stanley Manne Children’s Research Institute at Ann & Robert H. Lurie Children’s Hospital of Chicago. “Identifying the precise cause of a child’s epilepsy as soon as possible would help us choose the most effective treatment to control seizures early on, which is important for healthier brain development. We found that genetic sequencing tests have a very high diagnostic yield, much more than some of the other tests that are routinely performed in initial work-up of early life epilepsy. Arriving at an accurate genetic diagnosis also would make many other tests unnecessary.”

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