A case report: New-onset refractory status epilepticus in a patient with FASTKD2-related mitochondrial disease

A case report: New-onset refractory status epilepticus in a patient with FASTKD2-related mitochondrial disease

ObjectivesNew-onset refractory status epilepticus (NORSE) is associated with high morbidity and mortality. Despite extensive work-up, the underlying etiology remains unknown in 50% of affected individuals. Mitochondrial disorders represent rare causes of NORSE. Biallelic variants in FASTKD2 were rep...

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Bibliographic Details
Main Authors: Alexandra Astner-Rohracher, Matthias Mauritz, Markus Leitinger, Fabio Rossini, Gudrun Kalss, Caroline Neuray, Elisabeth Retter, Saskia B. Wortmann, Melanie T. Achleitner, Johannes A. Mayr, Eugen Trinka
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-01-01
Series:Frontiers in Neurology
Subjects:
new-onset refractory status epilepticus (NORSE)
FASTKD2 mutation
genetic epilepsies
mitochondrial disease
drug-resistant epilepsy
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2022.1063733/full

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https://www.frontiersin.org/articles/10.3389/fneur.2022.1063733/full

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