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Article

Genetic analysis using targeted exome sequencing of 53 Vietnamese children with developmental and epileptic encephalopathies.

American journal of medical genetics. Part A - 1 Jul 2022

Hieu Nguyen Le Trung, Thu Nguyen Thuy Minh, Ngan Le Tran Anh, Van Le Thi Khanh, Huy Do Phuoc, Linh Pham Thi Truc, Mai Nguyen Thi Quynh, Hien Huynh Thi Dieu, Hang Do Thi Thu

Abstract excerpt

Developmental and epileptic encephalopathies (DEE) refers to a group of rare and severe neurodevelopmental disorders where genetic etiologies can play a major role. This study aimed to elucidate the genetic etiologies of a cohort of 53 Vietnamese patients with DEE. All patients were classified into known electroclinical syndromes where possible. Exome sequencing (ES) followed by a targeted analysis on 294...

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PMID: 35365919
DOI: 10.1002/ajmg.a.62741

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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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