The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge

The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge

Epileptic encephalopathies (EEs) and developmental and epileptic encephalopathies (DEEs) are a group of severe early-onset neurodevelopmental disorders (NDDs). In recent years, next-generation equencing (NGS) technologies enabled the discovery of numerous genes involved in these conditions. However,...

Full description

Bibliographic Details
Main Authors: Luciana Musante, Paola Costa, Caterina Zanus, Flavio Faletra, Flora M. Murru, Anna M. Bianco, Martina La Bianca, Giulia Ragusa, Emmanouil Athanasakis, Adamo P. d’Adamo, Marco Carrozzi, Paolo Gasparini
Format: Article
Language:English
Published: MDPI AG 2022-03-01
Series:Genes
Subjects:
neurodevelopmental disorders (NDDs)
epileptic encephalopathies (EEs)
developmental and epileptic encephalopathies (DEEs)
whole-exome sequencing (WES)
reverse phenotyping
Online Access:https://www.mdpi.com/2073-4425/13/3/500

Internet

https://www.mdpi.com/2073-4425/13/3/500

Similar Items