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Gut Instincts: Unusual Suspects in Seizure Worsening.
Epilepsy Curr
December 2024
Department of Pharmaceutics, University of Washington-Seattle.
Effects of One-Year Anti-seizure Treatment with Add-On Cenobamate on Bone Density and Bone Turnover in Adults with Drug-Resistant Focal Epilepsy: An Observational Study.
CNS Drugs
December 2024
Epilepsy Center, Department of Neurosurgery, Faculty of Medicine, University of Freiburg, Breisacher Strasse 64, 79106, Freiburg, Germany.
Background And Objective: Cenobamate is a novel anti-seizure medication (ASM) with unusually high responder rates even in patients with refractory epilepsy. Due to its enzyme-inducing properties, cenobamate could negatively affect bone metabolism, similar to other ASMs; however, effects of long-term cenobamate treatment on bone health have not yet been investigated. The aim of this longitudinal observational study was to assess the effects of 1 year of continuous, adjunctive cenobamate treatment on bone health in patients with drug-resistant, focal epilepsy.
View Article and Find Full Text PDFDelayed focal seizures following gunshot wound to the head in a child with minimal initial sequelae.
Radiol Case Rep
January 2025
Department of Neurology, Genetics, and Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA.
A 6 year old girl accidentally discovered a gun in her home and shot herself in her mouth. A bullet lodged in her right frontal lobe, but she remained neurologically intact with minimal symptoms. Her diagnosis was delayed due to the family leaving the emergency room for long wait times and later noticed over 72 hours from the injury at a dentist appointment.
View Article and Find Full Text PDFA Case Report of Parental Germline Mosaicism in the Gene of Two Iranian Siblings.
Basic Clin Neurosci
July 2024
Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Article Synopsis
- DEE9 is a developmental and epileptic encephalopathy caused by mutations in a specific gene, leading to early-onset seizures, intellectual disabilities, and behavioral issues, particularly affecting certain females and rare male cases.
- The study reported two sisters with DEE9 who have a specific heterozygous mutation, following genetic testing methods like whole-exome sequencing and Sanger sequencing.
- The findings highlight the recognition of germline mosaicism for this gene, underlining the need for genetic counseling and considering prenatal diagnosis in families affected by X-linked or autosomal dominant disorders.
Overcoming Diagnostic Uncertainty: A Case of Temporal Lobe Epilepsy With Normal MRI and EEG.
Cureus
October 2024
Medicine, NYC Health + Hospitals, New York, USA.
Article Synopsis
- Temporal lobe epilepsy (TLE) is difficult to diagnose due to its varied presentations and reliance on MRIs and EEGs, which may lead to underdiagnosis.
- Symptoms can include unusual behaviors and psychiatric issues, and treatment with antiepileptic medications should be considered even if tests appear normal.
- A case study is presented where a patient with behavioral issues and recurrent loss of consciousness, despite normal test results, significantly improved after starting divalproex sodium, demonstrating the need for awareness of TLE indicators.
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