Concierge Medicine Today

Genetic Testing Evaluated For Diagnosing Epilepsy, Monogenic Conditions

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NEW YORK (GenomeWeb) – Two new independent studies suggest that microarrays, exome sequencing, and other broad genetic profiling methods can narrow in on mutational culprits in a significant proportion of pediatric epilepsy cases or cases involving children with undiagnosed monogenic conditions.

For one of the JAMA Pediatrics studies, published today, researchers from the Ann & Robert Lurie Children’s Hospital of Chicago, Northwestern University, and elsewhere recruited 775 families with children diagnosed with epilepsy before the age of three. Nearly half of the 680 affected children without acquired brain injuries — 327 of the cases — received some form of genetic testing for the study.



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