Dravet syndrome: From neurodevelopmental to neurodegenerative disease?

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 ...

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Seizure outcomes following epilepsy surgery in pediatric and young adult patients with high‐grade brain tumors: Results from a European survey

Seizure outcomes following epilepsy surgery in pediatric and young adult patients with high-grade brain tumors: Results from a European survey

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 ...

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Magnetic resonance imaging findings in SCN1A‐related epilepsies and Dravet syndrome: A systematic review

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 ...

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Factors influencing seizure induction in patients with intracranial EEG recording

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 ...

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Blocking the innate immune CD1d/NKT cell axis prevents the development of cortical hyperexcitability and posttraumatic epilepsy

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 ...

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Assisted reproduction and the fetal malformation risk associated with antiseizure medication exposure in pregnancy

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 ...

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Operational definition of developmental and epileptic encephalopathies to underpin the design of therapeutic trials

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 ...

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Brain 18F‐fluorodeoxyglucose positron emission tomography: An efficient tool at the initial diagnosis of nonlesional late onset epilepsy

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 ...

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Can artificial intelligence diagnose seizures based on patients’ descriptions? A study of GPT‐4

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 ...

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