Ontology highlight
ABSTRACT:
SUBMITTER: Varesio C
PROVIDER: S-EPMC8228291 | biostudies-literature | 2021 May
REPOSITORIES: biostudies-literature
Varesio Costanza C Gana Simone S Asaro Alessia A Ballante Elena E Cabini Raffaella Fiamma RF Tartara Elena E Bagnaschi Michela M Pasca Ludovica L Valente Marialuisa M Orcesi Simona S Cereda Cristina C Veggiotti Pierangelo P Borgatti Renato R Valente Enza Maria EM De Giorgis Valentina V
Diagnostics (Basel, Switzerland) 20210525 6
<h4>Background</h4>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.<h4>Methods</h4>We conducted a retrospective, observational study on 72 probands. All patients underwent a first diagnostic level of a 135 gene panel, a second of 297 genes for inconclusive cases, ...[more]