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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.

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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.

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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.

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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.

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Japanese guidelines for treatment of pediatric status epilepticus - 2023.

Brain 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.

Article Synopsis
  • The 2015 updated definition of status epilepticus (SE) emphasizes the importance of early treatment, identifying key time points for diagnosis and management.
  • Japan has revised its pediatric SE treatment guidelines, recommending buccal midazolam for pre-hospital and in-hospital treatment when intravenous access is not possible, while benzodiazepines are preferred when intravenous access is available.
  • The updated guidelines note similarities in seizure cessation rates across different medications, highlight the need for further recommendations on nonconvulsive status epilepticus (NCSE), and plan to explore the effects of NCSE treatment on children's outcomes in future editions.
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