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). 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.