Clinical Role of Codon 87 of the CYFIP2 Gene in Early Infantile Epileptic Encephalopathy: A Clinical Case Description

The diagnosis of early infantile epileptic encephalopathy (EIEE) remains challenging, and next-generation sequencing (NGS) techniques have played a key role in identifying genetic causes. Recent studies have shown an association between mutations in the CYFIP2 gene and EIEE, with 20 deleterious vari...

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Detalles Bibliográficos
Autores principales: Da Silva Cardoso, Juliana, Gomes, Rita, Abreu, Maria, Parente Freixo, João, Falcão Reis, Cáudia, Garrido, Cristina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10038648/
https://www.ncbi.nlm.nih.gov/pubmed/36968925
http://dx.doi.org/10.7759/cureus.35323

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10038648/
https://www.ncbi.nlm.nih.gov/pubmed/36968925
http://dx.doi.org/10.7759/cureus.35323

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