Genetic Tools Uncover Cause of Childhood Seizure Disorder Missed by Other Methods

As reported in ScienceDaily, early childhood seizures result from a rare disease that begin in the first months of life. Researchers at University of Utah Health have developed high-tech tools to uncover the genetic cause of the most difficult to diagnose cases. The results are available online on August 13 in the journal Nature Genomic Medicine.

"These tools let us peek in the dark corners and under the rug of the genome that other methods do not," said Aaron Quinlan, Ph.D., associate professor of Human Genetics and Biomedical Informatics at U of U Health and senior author on the paper. "With this approach rather than undergoing multiple tests, families can receive results faster, limiting their medical odyssey, at ultimately a lower cost."

According to Betsy Ostrander, M.D., early infantile epileptic encephalopathy (EIEE) begins with intractable seizures in the first months of life.

"Most patients are on four to five medications and still suffer from frequent, debilitating seizures, from once a week to 50-times a day," said Ostrander, assistant professor of Pediatrics at U of U Health and the Division of Pediatric Neurology at Primary Children's Hospital and first author...

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