The pre-ictal state is of interest for better understanding pathophysiological processes leading up to seizures and for identifying potential biomarkers for the prediction of these events. We present two cases of patients with focal epilepsy (occipital, insular) who had seizures during functional magnetic resonance imaging (fMRI) scans. Interictal (>30min pre-seizure) control data was available for one participant. The location and timing of pre-ictal blood oxygenation-level dependent (BOLD) signal alterations were examined along with changes in pre-ictal functional connectivity. BOLD signal increases were seen at/close to the seizure onset zone and in/near a contralateral homologous region for both patients. In one patient, BOLD signal decreases were also observed distant from the seizure onset zone. The BOLD signal changes began 11 to 3min prior to seizure onset. These findings add to a growing number of cases of pre-ictal hemodynamic alterations. The significant BOLD signal increases seen in/near the homologous region contralateral to the seizure onset zone in both patients suggests that this area may play a critical role in the pre-ictal state, perhaps functioning to inhibit the seizure onset zone, or alternatively, to be directly involved in seizure generation. Pre-ictal functional connectivity, using a seed at the presumed seizure onset zone, demonstrated increases in connectivity with regions near the contralateral homologous region prior to seizures. Alterations in connectivity were also observed and characterized in interictal data, highlighting the importance of future research in determining if the observed pre-ictal changes are specific indicators for impending seizures.
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http://dx.doi.org/10.1016/j.eplepsyres.2016.09.010 | DOI Listing |
Am J Hum Genet
January 2025
Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany; Center for Rare Disease, University of Tübingen, 72076 Tübingen, Germany; Genomics for Health in Africa (GHA), Africa-Europe Cluster of Research Excellence (CoRE).
Inborn errors of selenoprotein expression arise from deleterious variants in genes encoding selenoproteins or selenoprotein biosynthetic factors, some of which are associated with neurodegenerative disorders. This study shows that bi-allelic selenocysteine tRNA-specific eukaryotic elongation factor (EEFSEC) variants cause selenoprotein deficiency, leading to progressive neurodegeneration. EEFSEC deficiency, an autosomal recessive disorder, manifests with global developmental delay, progressive spasticity, ataxia, and seizures.
View Article and Find Full Text PDFSeizure
December 2024
Neurology Department, Kasralainy Faculty of Medicine, Cairo University, Cairo, Egypt. Electronic address:
Data about the effect of Ramadan fasting on seizure control among adolescents with epilepsy (AWE) is scarce. Several psycho-behavioral problems have also been encountered in this teenage group. This study aimed to assess seizure frequency and behavioral outcomes after Ramadan fasting in a sample of AWE METHODS: In this prospective study, AWE who completed fasting during Ramadan 2024 were evaluated regarding the seizure frequency of each type during Shaban (the month immediately preceding Ramadan) and Ramadan.
View Article and Find Full Text PDFJ Neurosurg Pediatr
January 2025
2Neurology, UT Southwestern, Dallas, Texas.
Objective: Patients with drug-resistant epilepsy (DRE) are often referred for phase II evaluation with stereo-electroencephalography (SEEG) to identify a seizure onset zone for guiding definitive treatment. For patients without a focal seizure onset zone, neuromodulation targeting the thalamic nuclei-specifically the centromedian nucleus, anterior nucleus of the thalamus, and pulvinar nucleus-may be considered. Currently, thalamic nuclei selection is based mainly on the location of seizure onset, without a detailed evaluation of their network involvement.
View Article and Find Full Text PDFDrugs Real World Outcomes
January 2025
Kabul University of Medical Sciences, Kabul, Afghanistan.
Anti-seizure medications (ASMs) are specific types of anticonvulsants used to treat epileptic seizures. However, several studies have shown an association between ASMs and an increased risk of hematological disorders, such as thrombocytopenia, aplastic anemia, and platelet function disorders leading to prolonged bleeding times. This review explores the existing literature on this topic, investigating a wide variety of ASMs, ranging from first-generation medications to newer ones.
View Article and Find Full Text PDFEpilepsia
January 2025
Department of Clinical Neurosciences, University of Calgary, Calgary, Alberta, Canada.
Objective: Somatic variants causing epilepsy are challenging to detect, as they are only present in a subset of brain cells (e.g., mosaic), resulting in low variant allele frequencies.
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