MAR
Abstract
Objective
Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy caused by SCN1A haploinsufficiency in the majority of cases. Caregivers of adults with DS often complain about the loss of previously acquired skills. We set out to explore these perceptions and determine whether abnormalities reported were detectable in validated tests. We also investigated possible correlations between symptoms, age, and exposure to sodium channel blockers (SCBs).
Methods
This cross-sectional, multicenter study used the Vineland Adaptive Behavior Scales, 3rd edition (raw scores) for behavior ...
Seguir leyendo →MAR
Abstract
Objective
Epilepsy surgery is a standard treatment for drug-resistant epilepsy, resulting in seizure freedom in a significant number of cases. Although frequently performed for low-grade brain tumors, it is rarely considered for high-grade tumors, despite the impact of chronic epilepsy on quality of life and cognition.
Methods
This retrospective multicenter study across 43 European centers evaluated epilepsy surgery outcomes in children with ...
Seguir leyendo →MAR
Abstract
We systematically reviewed the literature on neuroimaging findings in Dravet syndrome (DS) and SCN1A-related epilepsies to classify the reported structural abnormalities observed on magnetic resonance imaging (MRI). We searched PubMed and MEDLINE from January 2000 to June 2024 for studies describing brain MRI findings in DS and SCN1A-related epilepsies through specific keywords and MeSH (Medical Subject Headings) terms. Duplicates were removed, and titles and abstracts were screened. Studies with absent/marginal MRI focus and reviews were excluded. Images available were evaluated ...
Seguir leyendo →MAR
Abstract
Objective
To shorten inpatient epilepsy monitoring unit (EMU) stays during epilepsy surgery evaluation, physicians utilize techniques to induce seizures including antiseizure medication (ASM) reduction, sleep deprivation, and chemical stimulation. We assessed the relative efficacy of these techniques.
Methods
We reviewed data from patients admitted for intracranial video-EEG (electroencephalography) evaluation at a single center. Demographics, baseline seizure frequency, seizure type, sleep deprivation, reduction in ASM, chemical stimulation method, and seizures were recorded. Statistical analyses were performed in R with survival analyses.
Results
A total of 209 ...
Seguir leyendo →MAR
Abstract
Objective
Posttraumatic epilepsy (PTE) that develops after a traumatic brain injury (TBI) cannot be prevented by current treatments. Although neuroinflammation is involved in epileptogenesis, a potential role for cellular immunity in this process is largely unknown. Natural killer T (NKT) cells are innate-like T lymphocytes that recognize lipid antigens presented by the major histocompatibility complex class I-like CD1d molecule and play a crucial role in regulating immune responses. Herein we examined the role of the CD1d/NKT cell axis in PTE.
Methods
We used ...
Seguir leyendo →MAR
Abstract
Objective
This study was undertaken to explore the possible role of assisted reproduction treatment (ART) in the occurrence of fetal malformation in women with antiseizure medication (ASM)-treated epilepsy.
Methods
Data collected in the Australian Pregnancy Register of Antiepileptic Drugs concerning the pregnancies of women with ASM-treated epilepsy were analyzed using standard simple statistical methods.
Results
The malformed fetal occurrence rate tended to be higher in women with epilepsy (WWE) treated with ASMs than in those untreated in at least the earlier months of pregnancy, the ...
Seguir leyendo →MAR
Abstract
Developmental and epileptic encephalopathies (DEEs) are the most severe group of epilepsies, characterized by drug-resistant seizures and developmental slowing or regression. DEEs encompass many epilepsy syndromes, although not all patients with a DEE can be classified into a specific syndrome. Our understanding of the etiologies of DEEs has been revolutionized with next-generation sequencing, with more than 900 genes implicated, in addition to structural causes. It is therefore now possible to consider precision medicine and novel therapeutic approaches for these devastating ...
Seguir leyendo →MAR
Abstract
Objective
This study evaluates the diagnostic performance and prognostic value of brain 18F-fluorodeoxyglucose (18F-FDG) positron emission tomography (PET) at the initial diagnosis of patients with nonlesional late onset epilepsy (NLLOE).
Methods
In this cohort study at the University Hospital of Nancy, France, newly diagnosed NLLOE patients, >50 years old, were consecutively included from June 2017 to January 2021 and systematically underwent brain 18F-FDG PET. They were categorized into four presumed etiological NLLOE subtypes: neurodegenerative subtype (NDS; patients with a diagnosis of neurodegenerative disease), microvascular ...
Seguir leyendo →MAR
Abstract
Objective
Generalist large language models (LLMs) have shown diagnostic potential in various medical contexts but have not been explored extensively in relation to epilepsy. This paper aims to test the performance of an LLM (OpenAI’s GPT-4) on the differential diagnosis of epileptic and functional/dissociative seizures (FDS) based on patients’ descriptions.
Methods
GPT-4 was asked to diagnose 41 cases of epilepsy (n = 16) or FDS (n = 25) based on transcripts of patients describing their symptoms (median word count = 399). It was first asked to perform this task ...
Seguir leyendo →MAR