Clinical next generation sequencing in developmental and epileptic encephalopathies: Diagnostic relevance of data re-analysis and variants re-interpretation
Valeria Salinas, Nerina Martínez, Josefina Pérez Maturo, Sergio Rodríguez Quiroga, Lucía Zavala, Nancy Medina, Hernán Amartino, Ignacio Sfaello, Guillermo Agosta, Eva Maria Serafín, Dolores González Morón, Marcelo Kauffman, Patricia Vega
Topics & Concepts
Exome sequencingDNA sequencingEpilepsyGenetic testingEtiologyClinical significanceGeneticsBiologyGenetic heterogeneityBioinformaticsMedicineMutationGenePhenotypeInternal medicineNeuroscienceGenomics and Rare DiseasesGenetics and Neurodevelopmental DisordersCRISPR and Genetic Engineering