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Neuropsychiatric profile in tuberous sclerosis complex patients with epilepsy.
Front Pediatr
January 2025
Division of Pediatric Neurology, Sidra Medicine, Doha, Qatar.
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by mutations in the or genes, leading to dysregulation of the mTOR pathway and multisystemic manifestations. Epilepsy is a common neurologic feature of TSC, frequently accompanied by neuropsychiatric comorbidities. Understanding the relationship between epilepsy severity, TSC-associated neuropsychiatric disorders (TAND), and cognitive outcomes is crucial for optimizing patient care.
View Article and Find Full Text PDFAdult phenotypes of genetic developmental and epileptic encephalopathies.
Brain Commun
January 2025
Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Developmental and epileptic encephalopathies constitute a group of severe epilepsies, with seizure onset typically occurring in infancy or childhood, and diverse clinical manifestations, including neurodevelopmental deficits and multimorbidities. Many have genetic aetiologies, identified in up to 50% of individuals. Whilst classically considered paediatric disorders, most are compatible with survival into adulthood, but their adult phenotypes remain inadequately understood.
View Article and Find Full Text PDFPorphyric encephalopathy in a 15-year-old girl: A case report.
SAGE Open Med Case Rep
January 2025
College of Medicine, University of Nebraska Medical Center, Omaha, NE, USA.
A 15-year-old girl presented with new onset tonic-clonic seizures, encephalopathy, abdominal pain, and hypertension with a history of weight loss and emesis. Brain magnetic resonance imaging scans showed diffuse, bilateral cortical and subcortical gray and white matter signal abnormalities. Electroencephalography showed background slowing and disorganization.
View Article and Find Full Text PDFKetamine Versus Midazolam as the First-Line Continuous Infusion for Status Epilepticus in Children with Cardiac Disease.
Neurocrit Care
January 2025
Division of Neurology, Children's National Hospital, Washington, DC, USA.
Background: The treatment of status epilepticus (SE) in children with cardiac disease is challenging given their often-tenuous hemodynamic state. We aim to determine whether ketamine is safe and effective in children with cardiac disease as the first-line continuous infusion for the treatment of refractory SE (RSE) and to compare ketamine to midazolam for the treatment of RSE in this population.
Methods: This is a single-center retrospective cohort study of pediatric patients with cardiac disease and RSE admitted to the cardiac intensive care unit at a tertiary children's hospital between January 1, 2017 and June 30, 2023.
Early-phase EEG power spectrum analysis may differentiate acute encephalopathy with biphasic seizures and late reduced diffusion from prolonged febrile seizures.
Epilepsy Res
January 2025
Department of Pediatric Neurology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan. Electronic address:
Background: Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is clinically characterized by biphasic seizures associated with mild to severe neurological sequelae and is the most common subtype of acute encephalopathy in Japan, accounting for around 30 % of cases. The present study retrospectively analyzed the utility of electroencephalography (EEG) in determining the optimal method of diagnosing AESD at the early stage.
Methods: This study explores early power value differences to differentiate acute encephalopathy from prolonged febrile seizure (FS).
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