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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
  • drug induced
  • replacement therapy
  • temporal lobe epilepsy
  • sensitive detection