Unveiling a de novo variant: Clinical progression and management challenges in a case of developmental and epileptic encephalopathy – A case report

Unveiling a de novo variant: Clinical progression and management challenges in a case of developmental and epileptic encephalopathy – A case report

Developmental and epileptic encephalopathies (DEEs), such as SYNGAP1 -related DEE, are marked by severe developmental delays and pharmaco-resistant seizures due to specific genetic variants. This case report focuses on a 9-year-old male with a de novo SYNGAP1 variant (c.1267del, p.Tyr423Metfs*17), i...

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Main Authors: Norma E de León Ojeda, Fridha V Villalpando-Vargas, Fabrizio A Mortola, Juan C Barrera de Leon, Tania P Sánchez-Murguía, Jonathan A Cisneros-Orozco, Alioth Guerrero-Aranda
Format: Article
Language:English
Published: SAGE Publishing 2024-11-01
Series:SAGE Open Medical Case Reports
Online Access:https://doi.org/10.1177/2050313X241302964
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