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Exome Sequencing Has Clinical Implications for Some Unexplained Pediatric Epilepsy Cases

Exome sequencing can yield diagnoses that clinical ramifications among children with unexplained epilepsy, according to a paper published in JAMA Network Open. A Boston Children's Hospital-led team sequenced the exomes of 522 pediatric patients who presented with unexplained epilepsy and their available parents. Through this, they uncovered genetic diagnoses for 100, or about 19 percent, of patients. Diagnoses were more common among patients with intellectual disability, early-onset seizures, or motor impairment. Data to gauge clinical utility was available for 71 of the patients who received a genetic diagnosis, and, of those, 29 had a change in disease treatment, management, or prognosis, such as a change in medication or diet. "Beyond clinical utility, we noted anecdotally that several families expressed reduced guilt or shame after genetic diagnosis, relief at the end of a diagnostic odyssey that in some cases had lasted several years, and hope for still undiagnosed families that answers were still being explored through research," they add.