New-Onset Refractory Status Epilepticus Due to a Novel MT-TF Variant

Abstract excerpt

Objective: ). 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.610T>C) in a family presenting with a combined movement disorder and epilepsy phenotype. The variant was present at 97% heteroplasmy in the peripheral blood and in a homoplasmic state in skin...

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