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Article

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

European journal of medical genetics - 1 Dec 2021

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

Abstract excerpt

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 suggests the periodic need for re-interpretation and re-analysis of genetic studies without positive results. In...

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PMID: 34673242
DOI: 10.1016/j.ejmg.2021.104363

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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