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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Principais autores:	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
Formato:	Artigo
Idioma:	Inglês
Publicado:	MDPI AG 2021-05-01
Series:	Diagnostics
Assuntos:	epilepsy neurodevelopmental disorders developmental epileptic encephalopathies next-generation sequencing techniques exome sequencing virtual genetic panels
Acceso en liña:	https://www.mdpi.com/2075-4418/11/6/948
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