The present study combined functional magnetoencephalography (MEG) and anatomical magnetic resonance imaging (MRI) information in three patients affected by tuberous sclerosis and partial epilepsy. MEG recordings were performed during both spontaneous and visual evoked activity. The former showed a large variety of complexes whose spatial and temporal distribution suggested different neuronal populations acting simultaneously in the same focal district. When these data were integrated with MRI images (magnetic source imaging, MSI) there was agreement in the definition of tubers and extension of the epileptogenic area. Furthermore, cortical reactivity to rhythmical stimulation was studied with trains of visual stimuli according to a recently proposed frequency responsiveness procedure (FRP). As compared to normal controls, a large 6 Hz activity was observed during the pause after a non-resonant stimulation. This altered resonance property may indicate a disturbed primary sensory processing notwithstanding a preserved associated processing. These results show that neuronal malfunctioning in tuberous sclerosis complex patients may not be restricted to the area of cortical tubers, but can also affect functionally correlated regions.
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http://dx.doi.org/10.1016/s0387-7604(98)00034-5 | DOI Listing |
Front Pediatr
January 2025
Division of Pediatric Neurology, Sidra Medicine, Doha, Qatar.
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by mutations in the or genes, leading to dysregulation of the mTOR pathway and multisystemic manifestations. Epilepsy is a common neurologic feature of TSC, frequently accompanied by neuropsychiatric comorbidities. Understanding the relationship between epilepsy severity, TSC-associated neuropsychiatric disorders (TAND), and cognitive outcomes is crucial for optimizing patient care.
View Article and Find Full Text PDFFront Neurosci
January 2025
Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.
Malformations of cortical development encompass a broad range of disorders associated with abnormalities in corticogenesis. Widespread abnormalities in neuronal formation or migration can lead to small head size or microcephaly with disorganized placement of cell types. Specific, localized malformations are termed focal cortical dysplasias (FCD).
View Article and Find Full Text PDFEpilepsia
January 2025
Applied Translational Neurogenomics Group, Vlaams Instituut voor Biotechnology (VIB) Center for Molecular Neurology, VIB, Antwerp, Belgium.
Objective: This study aims to improve genetic diagnosis in childhood onset epilepsy with neurodevelopmental problems by utilizing RNA sequencing of fibroblasts to identify pathogenic variants that may be missed by exome sequencing and copy number variation analysis.
Methods: We enrolled 41 individuals with childhood onset epilepsy and neurodevelopmental problems who previously had inconclusive genetic testing. Fibroblast samples were cultured and analyzed using RNA sequencing to detect aberrant expression, aberrant splicing, and monoallelic expression using the Detection of RNA Outlier Pipeline (DROP) pipeline.
Hum Mol Genet
January 2025
Department of Cell & Developmental Biology, Vanderbilt University School of Medicine, 1161 21st Ave S, Nashville, Tennessee, 37232, United States of America.
Tuberous Sclerosis Complex (TSC) is a debilitating developmental disorder characterized by a variety of clinical manifestations. While benign tumors in the heart, lungs, kidney, and brain are all hallmarks of the disease, the most severe symptoms of TSC are often neurological, including seizures, autism, psychiatric disorders, and intellectual disabilities. TSC is caused by loss of function mutations in the TSC1 or TSC2 genes and consequent dysregulation of signaling via mechanistic Target of Rapamycin Complex 1 (mTORC1).
View Article and Find Full Text PDFNMR Biomed
March 2025
Paul C. Lauterbur Research Center for Biomedical Imaging, Shenzhen Institutes of Advanced Technology, Chinese Academy of Sciences, Shenzhen, China.
In clinical practice, particularly in neurology assessments, imaging multiparametric MR images with a single-sequence scan is often limited by either insufficient imaging contrast or the constraints of accelerated imaging techniques. A novel single scan 3D imaging method, incorporating Wave-CAIPI and MULTIPLEX technologies and named WAMP, has been developed for rapid and comprehensive parametric imaging in clinical diagnostic applications. Featuring a hybrid design that includes wave encoding, the CAIPIRINHA sampling pattern, dual time of repetition (TR), dual flip angle (FA), multiecho, and optional flow modulation, the WAMP method captures information on RF B1t fields, proton density (PD), T1, susceptibility, and blood flow.
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