Genetic Testing Justified in Early Childhood Epilepsy

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Epilepsy gene-sequencing panels and whole-exome sequencing had substantially greater diagnostic yields than chromosomal microarray.
Epilepsy gene-sequencing panels and whole-exome sequencing had substantially greater diagnostic yields than chromosomal microarray.

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 in JAMA Pediatrics.

Anne Berg, PhD, 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% of study participants had specific genetic factors that caused epilepsy. Genetic testing also provided a diagnosis in 25% 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 wrote.

Reference

Berg AT, Coryell J, Saneto RP, et al. Early-life epilepsies and the emerging  role of genetic testing [published online July 31, 2017]. JAMA Pediatr. doi:10.1001/jamapediatrics.2017.1743

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