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,...

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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

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