Background: Cerebrovascular disease (CVD) is a major contributor to epilepsy; however, patients with epilepsy also have a significantly increased risk of stroke. The way in which epilepsy contributes to the increased risk of stroke is still uncertain and is ill-characterized in neuropathological studies. A neuropathological characterization of cerebral small vessel disease (cSVD) in patients with chronic epilepsy was performed.
Methods: Thirty-three patients with refractory epilepsy and hippocampal sclerosis (HS) submitted to epilepsy surgery from a reference center were selected between 2010 and 2020 and compared with 19 autopsy controls. Five randomly selected arterioles from each patient were analyzed using a previously validated scale for cSVD. The presence of CVD disease imaging markers in pre-surgical brain magnetic resonance imaging (MRI) was studied.
Results: There were no differences in age (43.8 vs. 41.6 years; p = 0.547) or gender distribution (female gender 60.6% vs. male gender 52.6%; p = 0.575) between groups. Most CVD findings in brain MRI were mild. Patients had a mean time between the epilepsy onset and surgery of 26 ± 14.7 years and were medicated with a median number of three antiseizure medication (ASMs) [IQR 2-3]. Patients had higher median scores in arteriolosclerosis (3 vs. 1; p < 0.0001), microhemorrhages (4 vs. 1; p < 0.0001) and total score value (12 vs. 8.9; p = 0.031) in comparison with controls. No correlation was found between age, number of years until surgery, number of ASMs or cumulative defined daily dosage of ASM.
Conclusion: The present study provides evidence supporting the increased burden of cSVD in the neuropathological samples of patients with chronic epilepsy.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1111/ene.15963 | DOI Listing |
Neurobiol Dis
January 2025
The University of Texas Southwestern Medical Center, Department of Neurology, Dallas, TX, United States of America; The University of Texas Southwestern Medical Center, Department of Psychiatry, Dallas, TX, United States of America; The University of Texas Southwestern Medical Center, Department of Pediatrics, Dallas, TX, United States of America; The University of Texas Southwestern Medical Center, Department of Neuroscience, Dallas, TX, United States of America. Electronic address:
Loss of function in the subunits of the GTPase-activating protein (GAP) activity toward Rags-1 (GATOR1) complex, an amino-acid sensitive negative regulator of the mechanistic target of rapamycin complex 1 (mTORC1), is implicated in both genetic familial epilepsies and NDDs (Baldassari et al., 2018). Previous studies have found seizure phenotypes and increased activity resulting from conditional deletion of GATOR1 function from forebrain excitatory neurons (Yuskaitis et al.
View Article and Find Full Text PDFEur J Paediatr Neurol
December 2024
Department of Pediatrics, Peking University People's Hospital, Beijing, China; Epilepsy Center, Peking University People's Hospital, Beijing, China. Electronic address:
Aim: Exploring the association between SETD1B variants and absence seizures (ASs).
Methods: We engaged a small cohort of four pediatric epilepsy patients with identified SETD1B variants and conducted a comprehensive review of 50 documented instances. Clinical profiles were meticulously compiled, and genetic screening was executed via trio-based whole-exome sequencing.
Eur J Paediatr Neurol
January 2025
Department of Pediatric Neurology, University Children's Hospital and Medical Faculty, Justus Liebig University of Giessen, Giessen, Germany.
Background: CACNA1A-related disorders are rare and progressive; to date, there is no approved treatment. Trials with N-acetyl-leucine (NAL) demonstrated efficacy in disorders featuring ataxia, cognitive impairment, and epilepsy. Accordingly, we hypothesized that NAL may be effective in CACNA1A-associated disorders.
View Article and Find Full Text PDFSeizure
November 2024
Neuronostics, Bristol, United Kingdom; Centre for Systems Modelling and Quantitative Biomedicine, University of Birmingham, Birmingham B15 2TT, United Kingdom; Institute of Metabolism and Systems Research, University of Birmingham, Birmingham B15 2TT, United Kingdom.
Background: Brain network analysis is an emerging field of research that could lead to the development, testing and validation of novel biomarkers for epilepsy. This could shorten the diagnostic uncertainty period, improve treatment, decrease seizure risk and lead to better management. This scoping review summarises the current state of electroencephalogram (EEG)-based network abnormalities for childhood epilepsies.
View Article and Find Full Text PDFNeurophysiol Clin
January 2025
Neuroscience and Human Genetics Department, Meyer Children's Hospital IRCCS, Full Member of European Reference Network on Rare and Complex Epilepsies, EpiCARE, viale Pieraccini 24, 50139, Florence, Italy; Neurofarba Department, University of Florence, viale Pieraccini 6, 50139, Florence, Italy.
Stereo-EEG is not just a diagnostic examination but a complex methodology, requiring an accurate synthesis of many data (anatomical, clinical, neurophysiological, cognitive, metabolic, and genetic). The implantation scheme is decided based on a hypothesis (or hypotheses) of epileptogenic zone localization. Subsequently, intracerebral electrical stimulation is used to define the extent of highly functional cortical regions and to reproduce the clinical symptoms and signs associated with seizures.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!