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A recurrent variant c.5126C>T in a Han-Chinese family with tuberous sclerosis complex.
Pak J Med Sci
January 2025
Lamei Yuan, MD, PhD, Health Management Center, the Third Xiangya Hospital, Disease Genome Research Center, Center for Experimental Medicine, the Third Xiangya Hospital, Research Center of Medical Experimental Technology, the Third Xiangya Hospital, Xiangya School of Medicine, Central South University, Changsha 410013, Hunan, China.
Objective: To identify the disease-causing variant in a family with tuberous sclerosis complex (TSC).
Methods: This study including a Han-Chinese pedigree recruited from the Third Xiangya Hospital, Central South University, Changsha, Hunan, China was conducted between February, 2019 and January, 2023. Detailed clinical examinations were performed on the proband and other family members of a Han-Chinese family with TSC.
Clinical and intracranial electrophysiological signatures of post-operative and post-ictal delirium.
Clin Neurophysiol
January 2025
Department of Neurosurgery, The University of Iowa, Iowa City, IA 52242, USA; Iowa Neuroscience Institute, The University of Iowa, Iowa City, IA 52242, USA.
Objectives: (1) Gain insight into the mechanisms of postoperative delirium (POD). (2) Determine mechanistic overlap with post-ictal delirium (PID). Epilepsy patients undergoing intracranial electrophysiological monitoring can experience both POD and PID, and thus are suitable subjects for these investigations.
View Article and Find Full Text PDFCardiac Implications in Dravet Syndrome: Can Electrocardiogram and Echocardiography Detect Hidden Risks?
Pediatr Neurol
January 2025
Faculty of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain; Pediatrics Research Group, Institut de Recerca Sant Pau (IR-Sant Pau), Barcelona, Spain; Pediatric Neurology Unit, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Background: Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy associated with loss-of-function variants in the SCN1A gene. Although predominantly expressed in the central nervous system, SCN1A is also expressed in the heart, suggesting a potential link between neuronal and cardiac channelopathies. Additionally, DS carries a high risk of sudden unexpected death in epilepsy (SUDEP).
View Article and Find Full Text PDFThe relationship between attitudes toward epilepsy and health literacy in Turkey: The mediating role of epilepsy knowledge.
Seizure
January 2025
Health Services Vocational School, Artvin Coruh University, Artvin, Turkey. Electronic address:
Objective: This study determined the mediating role of knowledge about epilepsy in the relationship between attitudes toward epilepsy and health literacy in Turkey.
Methods: This descriptive and cross-sectional study was conducted in Turkey with 4,393 participants. The sociodemographic form, Epilepsy Attitude Scale, Epilepsy Knowledge Scale, and Health Literacy Scale were used for data collection.
Can ChatGPT 4.0 Diagnose Epilepsy? A Study on Artificial Intelligence's Diagnostic Capabilities.
J Clin Med
January 2025
Innovation, Research and Teaching Service (SABES-ASDAA), Teaching Hospital of the Paracelsus Medical Private University (PMU), 39100 Bolzano, Italy.
: This study investigates the potential of artificial intelligence (AI), specifically large language models (LLMs) like ChatGPT, to enhance decision support in diagnosing epilepsy. AI tools can improve diagnostic accuracy, efficiency, and decision-making speed. The aim of this study was to compare the level of agreement in epilepsy diagnosis between human experts (epileptologists) and AI (ChatGPT), using the 2014 International League Against Epilepsy (ILAE) criteria, and to identify potential predictors of diagnostic errors made by ChatGPT.
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