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Clinical Role of Codon 87 of the CYFIP2 Gene in Early Infantile Epileptic Encep...
Da Silva Cardoso, Juliana; Gomes, Rita; Abreu, Maria; Parente Freixo, João; Falcão Reis, Cáudia; Garrido, CristinaThe 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 variants reported so far and a de novo mutational hotspot at codon 87. A male infant presented with seizures since the...
Data: 2023
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Origem: Repositório Científico da Unidade Local de Saúde de Santo António (ULSSA)
Acute Onset of Adult Alexander Disease and the Concept of GFAP Toxicity.
Godinho, Filipe; Guerreiro, Carolina; Parente Freixo, João; Oliveira, Jorge; Lourenço Rosa, José
Data: 2023
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Origem: Repositório do Centro Hospitalar de Lisboa Central, EPE