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Exome sequencing (ES) has played an important role in the identification of causative variants for individuals with epilepsy and has proven to be a valuable diagnostic tool. Less is known… Click to show full abstract
Exome sequencing (ES) has played an important role in the identification of causative variants for individuals with epilepsy and has proven to be a valuable diagnostic tool. Less is known about its clinical utility once a diagnosis is received. This study systematically reviewed the impact of ES results on clinical decision‐making and patient care in a pediatric epilepsy cohort at a tertiary care medical center.
Keywords:
clinical utility;
exome sequencing;
epilepsy cohort;
pediatric epilepsy
Journal Title: Epilepsia
Year Published: 2023
Link to full text (if available)
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Journal Title: Epilepsia
Year Published: 2023
Link to full text (if available)
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recommendations!