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

Elisabetta IndelicatoJohannes PfeilstetterMichael ZechIris UnterbergerJulia WanschitzSteffen BerweckSylvia Boesch

Published in: Neurology. Genetics (2023)

disease spectrum and highlights pitfalls in the diagnostics and management of mitochondrial epilepsy. The present findings advocate the introduction of rapid genetic testing in the diagnostic flow chart of NORSE in adults.

Keyphrases

liver failure
oxidative stress
respiratory failure
extracorporeal membrane oxygenation
intensive care unit
hepatitis b virus
acute respiratory distress syndrome
replacement therapy