Diagnostic Yield and Cost-Effectiveness of "Dynamic" Exome Analysis in Epilepsy with Neurodevelopmental Disorders: A Tertiary-Center Experience in Northern Italy.
Costanza VaresioSimone GanaAlessia AsaroElena BallanteRaffaella Fiamma CabiniElena TartaraMichela BagnaschiLudovica PascaMarialuisa ValenteSimona OrcesiCristina CeredaPierangelo VeggiottiRenato BorgattiEnza Maria ValenteValentina De GiorgisPublished in: Diagnostics (Basel, Switzerland) (2021)
Our findings suggested that "dynamic" NGS techniques applied to well-phenotyped individuals can save both time and resources. In patients with unexplained epilepsy comorbid with NDDs, our approach might maximize the number of diagnoses achieved.