Objective: We performed spike triggered functional MRI (fMRI) in a 12 year old girl with Benign Epilepsy with Centro-temporal Spikes (BECTS) and left-sided spikes. Our aim was to demonstrate the cerebral origin of her interictal spikes.
Methods: EEG was recorded within the 3 Tesla MRI. Whole brain fMRI images were acquired, beginning 2-3 seconds after spikes. Baseline fMRI images were acquired when there were no spikes for 20 seconds. Image sets were compared with the Student's t-test.
Results: Ten spike and 20 baseline brain volumes were analysed. Focal activiation was seen in the inferior left sensorimotor cortex near the face area. The anterior cingulate was more active during baseline than spikes.
Conclusions: Left sided epileptiform activity in this patient with BECTS is associated with fMRI activation in the left face region of the somatosensory cortex, which would be consistent with the facial sensorimotor involvement in BECT seizures. The presence of BOLD signal change in other regions raises the possibility that the scalp recorded field of this patient with BECTs may reflect electrical change in more than one brain region.
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http://dx.doi.org/10.1046/j.1528-1157.2003.02502.x | DOI Listing |
Cureus
December 2024
Division of Internal Medicine, Miyagi Central Hospital, Sendai, JPN.
Several neurological conditions, including transient global amnesia (TGA), may present an isolated sudden-onset temporary amnestic symptom. TGA is a benign, self-remitting neurological condition associated with hippocampal dysfunction. Meanwhile, certain other neurological conditions, such as cerebral ischemic stroke and hippocampal epilepsy, require appropriate therapeutic interventions.
View Article and Find Full Text PDFChildren (Basel)
January 2025
Department of Pediatrics, Division of Neonatology and Neonatal Intensive Medicine, University Hospital Centre Zagreb, 10000 Zagreb, Croatia.
Background/objectives: Cardiac rhabdomyoma (CR), the most frequently occurring fetal cardiac tumor, is often an early marker of tuberous sclerosis complex (TSC). This study evaluates outcomes of fetuses with prenatally diagnosed cardiac tumors managed at a single tertiary center.
Methods: Medical records of fetuses diagnosed with cardiac tumors between 2009 and 2024 were retrospectively reviewed.
Curr Issues Mol Biol
January 2025
Protosera Inc., Settsu-Shi 566-0002, Osaka, Japan.
Mutations in TSC1 or TSC2 in axons induce tuberous sclerosis complex. Neurological manifestations mainly include epilepsy and autism spectrum disorder (ASD). ASD is the presenting symptom (25-50% of patients).
View Article and Find Full Text PDFJ Hum Genet
January 2025
Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Interferon regulatory factor 2 binding protein-like (IRF2BPL) is a single-exon gene that is ubiquitously expressed in various tissues, including the brain. IRF2BPL encodes a transcription factor with two zinc-finger domains that potentially downregulate WNT signaling in the nervous system. Pathogenic IRF2BPL variants have been reported to cause developmental delay, seizures, myoclonus epilepsies, autistic spectrum disorder, and other neurodevelopmental disorders.
View Article and Find Full Text PDFAnn Clin Transl Neurol
January 2025
Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
Objective: Interpretation of clinical genetic testing, which identifies a potential genetic etiology in 25% of children with epilepsy, is limited by variants of uncertain significance. Understanding functional consequences of variants can help distinguish pathogenic from benign alleles. We combined automated patch clamp recording with neurophysiological simulations to discern genotype-function-phenotype correlations in a real-world cohort of children with SCN1A-associated epilepsy.
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