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

Seizure - 1 Mar 2024

Çapan Özlem Yalçın, Yapıcı Zuhal, Özbil Mehmet, Çağlayan Hande S

Abstract excerpt

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 analysis is a promising approach for the genetic diagnosis of DEE. Therefore, the aim of the present study is to evaluate the utility of WES in the diagnosis and treatment of DEE patients....

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PMID: 37353388
DOI: 10.1016/j.seizure.2023.06.009

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