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A De Novo Frameshift Variant in SMC1A Causes Non-Classic Cornelia de Lange Syndrome With Epilepsy: A Case Report and Literature Review.
Mol Genet Genomic Med
January 2025
Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Background: Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder. Although individuals with variants in the SMC1A gene are less commonly seen in CdLS, they exhibit a high incidence of epilepsy and atypical phenotypic variability.
Methods: The clinical data of a patient with non-classic CdLS and epilepsy caused by an SMC1A variant were summarized.
Status Epilepticus Treated With Vagus Nerve Stimulation in an Adult With Cortical Dysplasia: A Case Report.
Cureus
December 2024
Epilepsy Clinic, National Institute of Neurology and Neurosurgery, Mexico City, MEX.
Status epilepticus (SE) is a neurological emergency characterized by prolonged seizures, with significant risks of neuronal injury and mortality. This case presents a 60-year-old man with drug-resistant epilepsy and a history of recurrent prolonged seizures. His seizures began in early childhood and persisted despite multiple anti-seizure medications.
View Article and Find Full Text PDFNeuro-Behcet's Masquerading as Status Epilepticus and Meningoencephalitis in the Emergency Department.
J Emerg Med
October 2024
Department of Emergency Medicine, Cleveland Clinic Akron General, Akron, Ohio; Northeast Ohio Medical University, Rootstown, Ohio. Electronic address:
Background: Behcet disease (BD) is a rare small vessel vasculitis that commonly manifests as recurrent painful oral or genital ulcerations, uveitis, and skin lesions. Some patients with BD develop neurological symptoms termed neuro-Behcet's disease. In the emergency department setting, these symptoms can be mistaken for other common acute issues including stroke, infection, epilepsy, multiple sclerosis, toxin ingestion, or psychiatric conditions.
View Article and Find Full Text PDFValproate, a widely utilized medication for epilepsy, mood disorders, and migraines, has attracted attention for its potential therapeutic benefits extending beyond its traditional uses. This review article compiles recent findings on the expanded utility of valproate outside of epilepsy, mood disorders, and migraines. The review acknowledges conflicting results, discusses opportunities for future research, and underlines both well-established and lesser-known adverse effects, along with possible interventions to mitigate these side effects.
View Article and Find Full Text PDFNew onset refractory status epilepticus: Long-term outcomes beyond seizures.
Epilepsia
January 2025
Department of Clinical Neurological Sciences, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.
We propose and prioritize important outcome domains that should be considered for future research investigating long-term outcomes (LTO) after new onset refractory status epilepticus (NORSE). The study was led by the international NORSE Institute LTO Working Group. First, literature describing the LTO of NORSE survivors was identified using a PubMed search and summarized to identify knowledge gaps.
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