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Clin Genet
January 2025
Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan.
Heterozygous pathogenic variants in MBD5 (MIM*611472) and CCM2 (MIM*607929) cause autosomal dominant intellectual developmental disorder 1 (MIM#156200) and cerebral cavernous malformations-2 (MIM#603284), respectively. Both conditions may present with seizures, epilepsy, and status epilepticus. However, super-refractory status epilepticus, defined as seizures lasting more than 24 h, has not been described in either condition.
View Article and Find Full Text PDFFront Neurol
December 2024
Department of Neurology, University of California, San Francisco, San Francisco, CA, United States.
Objective: Electroconvulsive therapy (ECT) has been occasionally applied as a treatment for super-refractory status epilepticus (SRSE). However, the effects of ECT on electrographic activity and related clinical outcomes are largely unknown. Here, we use quantitative approaches on electroencephalography (EEG) data to evaluate the neurophysiological influences of ECT and how they may relate to patient survival.
View Article and Find Full Text PDFEpilepsia Open
December 2024
Department of Clinical Neuroscience and Therapeutics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.
To explore the potential efficacy of early initiation of intravenous cyclophosphamide (IVCPA), we reviewed consecutive four cases of super-refractory cryptogenic-new onset refractory status epilepticus (C-NORSE) between 2015 and 2023. We compared functional outcomes at 3 months and 1 year after the onset between patients who received IVCPA within 20 days (early-treated) and those who received it later (late-treated). All patients (median age: 43 years) had a prodromal fever.
View Article and Find Full Text PDFEpilepsy Behav Rep
November 2024
Department of Neurology, Oslo University Hospital, Oslo, Norway.
Status epilepticus (SE) is a critical medical emergency that demands immediate and effective intervention. We report a unique case involving a 21-year-old woman with left hemimegalencephaly who was hospitalized for super-refractory status epilepticus (SRSE) that persisted for 8 weeks. Despite extensive treatment efforts including multiple anti-seizure medications, anesthetics, high-dose methylprednisolone, anakinra, magnesium infusion, and a ketogenic diet, her condition remained unchanged.
View Article and Find Full Text PDFBrain Dev
December 2024
Working Group for the Revision of Treatment Guidelines for Pediatric Status Epilepticus/Convulsive Status Epilepticus, Japanese Society of Child Neurology, Tokyo, Japan; Committee for Integration of Guidelines, Japanese Society of Child Neurology, Tokyo, Japan; Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan.
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