De novo genetic variant in epileptic encephalopathy: Importance of specific diagnosis

[Variante genética de novo en encefalopatía epiléptica: Importancia del diagnóstico específico]

Johana Marcela Morán Fernández^1,2, Lina Johanna Moreno Giraldo ^3,4,5

1. Pediatric Residency Program, Universidad Libre Seccional Cali, Colombia; 2. Department of Medical Genetics, Universidad Libre Seccional Cali, Colombia ; 3. Universidad Libre Seccional Cali, Colombia; 4. Pediatrics Research Group (GRINPED); 5. Neurogenetics and Metabolic Diseases Section (NEUROMET), Cali, Colombia;

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DOI: 10.37980/im.journal.ggcl.20242381

Published: 2024-11-25

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