Novel Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotypes

• Published in: Pediatric neurology Vol. 53; no. 2; pp. 119 - 129
• Main Author: Mastrangelo, Mario
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.08.2015
• Subjects: children; early-onset epileptic encephalopathies; epilepsy; Genetic Predisposition to Disease - genetics; Genotype; Humans; Infant; Mutation - genetics; Neurology; next-generation sequencing; Pediatrics; Phenotype; PubMed - statistics & numerical data; Spasms, Infantile - genetics; Spasms, Infantile - physiopathology; epilepsy; early-onset epileptic encephalopathies; next-generation sequencing; children

Early-onset epileptic encephalopathies are severe disorders in which seizure recurrence impairs motor, cognitive, and sensory development. In recent years, next-generation sequencing technologies have led to the detection of several pathogenic new genes. A PubMed search was carried out using the ent...