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Article

Molecular diagnosis of epileptic encephalopathy of the first year of life applying a customized gene panel in a group of Argentinean patients.

Epilepsy & behavior : E&B - 1 Oct 2020

Juanes Matias, Veneruzzo Gabriel, Loos Mariana, Reyes Gabriela, Araoz Hilda Veronica, Garcia Francisco Martin, Gomez Gimena, Alonso Cristina Noemi, Chertkoff Lilien P, Caraballo Roberto

Abstract excerpt

OBJECTIVE: The aim of this study was to perform a molecular characterization of 17 Argentinean pediatric patients with diagnosis of having epileptic encephalopathies (EEs) of the first year of life without known etiology, applying next-generation sequencing (NGS). METHODS: We included 17 patients with EE with age of onset under 12 months without known etiology after ruling out structural abnormalities, metabolic...

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PMID: 32702657
DOI: 10.1016/j.yebeh.2020.107322

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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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