Diagnostic Yield and Cost-Effectiveness of “Dynamic” Exome Analysis in Epilepsy with Neurodevelopmental Disorders: A Tertiary-Center Experience in Northern Italy

Diagnostic Yield and Cost-Effectiveness of “Dynamic” Exome Analysis in Epilepsy with Neurodevelopmental Disorders: A Tertiary-Center Experience in Northern Italy

Background: The advent of next-generation sequencing (NGS) techniques in clinical practice led to a significant advance in gene discovery. We aimed to describe diagnostic yields of a “dynamic” exome-based approach in a cohort of patients with epilepsy associated with neurodevelopmental disorders. Me...

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Bibliographic Details
Main Authors: Costanza Varesio, Simone Gana, Alessia Asaro, Elena Ballante, Raffaella Fiamma Cabini, Elena Tartara, Michela Bagnaschi, Ludovica Pasca, Marialuisa Valente, Simona Orcesi, Cristina Cereda, Pierangelo Veggiotti, Renato Borgatti, Enza Maria Valente, Valentina De Giorgis
Format: Article
Language:English
Published: MDPI AG 2021-05-01
Series:Diagnostics
Subjects:
epilepsy
neurodevelopmental disorders
developmental epileptic encephalopathies
next-generation sequencing techniques
exome sequencing
virtual genetic panels
Online Access:https://www.mdpi.com/2075-4418/11/6/948

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https://www.mdpi.com/2075-4418/11/6/948

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