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Exome data of developmental and epileptic encephalopathy patients reveals de novo and inherited pathologic variants in epilepsy-associated genes

Capan, Ozlem Yalcin; Yapici, Zuhal; Ozbil, Mehmet; Caglayan, Hande S. (W.B. Saunders Ltd, 2024)

Purpose: In Developmental and Epileptic Encephalopathies (DEEs), identifying the precise genetic factors guides the clinicians to apply the most appropriate treatment for the patient. Due to high locus heterogeneity, WES ...