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Research Supports Genetic Testing in Early Life Epilepsy

Faster diagnosis leads to faster treatment, researcher says

genetic helix

MONDAY, July 31, 2017 (HealthDay News) -- Genetic investigation emphasizing sequencing tests should be incorporated into the routine initial evaluation of young children with epilepsy, according to a study published online July 31 in JAMA Pediatrics.

Anne Berg, Ph.D., of the Stanley Manne Children's Research Institute at Lurie Children's Hospital of Chicago, and colleagues evaluated data on 775 children across the United States who developed seizures before age 3.

Testing showed that 40 percent of study participants had specific genetic factors that caused epilepsy. Genetic testing also provided a diagnosis in 25 percent of patients who had epilepsy with an otherwise unknown etiology, according to a Lurie Children's Hospital news release. In addition, the researchers found that epilepsy gene-sequencing panels and whole-exome sequencing had substantially greater diagnostic yields than chromosomal microarray.

"Thorough genetic investigation emphasizing sequencing tests should be incorporated into the initial evaluation of newly presenting early-life epilepsies and not just reserved for those with severe presentations and poor outcomes," the authors write.

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