New-Onset Refractory Status Epilepticus Due to a Novel MT-TF Variant: Time for Acute Genetic Testing Before Treatment?

OBJECTIVE: The gene MT-TF encodes the mitochondrial tRNA of phenylalanine (tRNA(phe)). Its variations have been described as extremely rare etiologies of a variety of mitochondrial phenotypes. METHODS: By means of whole-exome sequencing (WES), we detected a novel likely causative MT-TF variant (m.61...

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Detalles Bibliográficos
Autores principales: Indelicato, Elisabetta, Pfeilstetter, Johannes, Zech, Michael, Unterberger, Iris, Wanschitz, Julia, Berweck, Steffen, Boesch, Sylvia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2023
Materias:
Clinical/Scientific Note
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10117698/
https://www.ncbi.nlm.nih.gov/pubmed/37090940
http://dx.doi.org/10.1212/NXG.0000000000200063

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