Clinical next generation sequencing in developmental and epileptic encephalopathies: Diagnostic relevance of data re-analysis and variants re-interpretation

• Published in: European journal of medical genetics Vol. 64; no. 12; p. 104363
• Main Authors: Salinas, Valeria, Martínez, Nerina, Maturo, Josefina Pérez, Rodriguez-Quiroga, Sergio A., Zavala, Lucia, Medina, Nancy, Amartino, Hernán, Sfaello, Ignacio, Agosta, Guillermo, Serafín, Eva Maria, Morón, Dolores González, Kauffman, Marcelo A., Vega, Patricia
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier Masson SAS 01.12.2021
• Subjects: Adolescent; Brain Diseases - genetics; Child; Child, Preschool; Epilepsy - genetics; Female; Genetic Association Studies - methods; Genetic Predisposition to Disease - genetics; Genetic Testing - methods; Genetic Variation - genetics; Genotype; High-Throughput Nucleotide Sequencing - methods; Humans; Male; Pediatric epilepsy; Phenotype; Re-interpretation; Recessive epilepsy; Targeted gene panel sequencing; Variants of uncertain significance; Whole exome sequencing; Whole Exome Sequencing - methods; Young Adult; Pediatric epilepsy; Variants of uncertain significance; Targeted gene panel sequencing; Whole exome sequencing; Re-interpretation; Recessive epilepsy

Developmental and epileptic encephalopathies (DEE) are complex pediatric epilepsies, in which heterogeneous pathogenic factors play an important role. Next-generation-sequencing based tools have shown excellent effectiveness. The constant increase in the number of new genotype-phenotype associations...