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Clinical and genetic study of developmental and epileptic encephalopathy in Argentinean pediatric patients.

Medicina - 1 Jan 2022

Juanes Matías, Loos Mariana, Reyes Gabriela, Veneruzzo Gabriel, García Francisco Martín, Aschettino Giovanna, Calligaris Silvana, Martín María Eugenia, Foncuberta María Eugenia, Alonso Cristina N, Caraballo Roberto H

Abstract excerpt

INTRODUCTION: The aim of this study was to extend our knowledge of the genetic background of Argentinean pediatric patients with developmental and epileptic encephalopathy (DEE) applying a next generation sequencing (NGS) panel. METHODS: Thirty one patients with DEE were studied, including these phenotypes: Dravet syndrome (n:7), Dravet like syndrome (n:3), West syndrome (WS) (n:6), WS that evolved to...

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PMID: 36571524

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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