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Impact on Clinical Decision Making of Next-generation Sequencing (NGS) in Pediatric Epilepsy in a Tertiary Epilepsy Referral Center

Neuropediatrics(2019)

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摘要
Objectives: Next-generation sequencing (NGS) helps to identify many monogenic epilepsy syndromes. Pediatric epilepsy patients can be tested using NGS epilepsy panels to diagnose them, thereby influencing treatment choices (Mei et al., 2017). The primary objective of this study was to evaluate the impact of genetic testing on clinical decision making in pediatric epilepsy patients referred to a tertiary epilepsy center, regarding both further planning/omitting of diagnostic procedures and therapeutic options.
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