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Genotype and phenotype characteristics of West syndrome in 20 Vietnamese children: Two novel variants detected by next-generation sequencing.

Epilepsy research - 1 Feb 2023

Duc Nguyen Minh, Thu Nguyen Thuy Minh, Bui Chi-Bao, Hoa Giang, Le Trung Hieu Nguyen

Abstract excerpt

BACKGROUND: In children with West syndrome (WS), whose treatment is challenging due to drug resistance and poor prognosis, investigation of genetic etiology and genotype-phenotype characteristics might assist in treatment optimization and genetic counseling. OBJECTIVE: In this study, we aimed to present the results of genetic analysis and the corresponding phenotypes in a cohort of twenty children with WS in...

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PMID: 36689859
DOI: 10.1016/j.eplepsyres.2023.107094

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