EEG tracings were analysed in 100 children of 58 fathers with epilepsy. A group of children aged up to 18 years was isolated and in 40 of them serial EEG investigations were carried out during 4-5 years. In this group abnormal tracings were found in 51% of cases, with seizure activity in 31%. In five children (5%) epilepsy was diagnosed. Seizure activity was significantly more frequent in girls than in boys (42.8% vs 19.6%). Seizure activity occurred with similar frequency in children born before or after manifestation of the disease in the father (30.1% and 31.9%). The observation of evolution of seizure activity during 4-5 years suggests that the greatest penetration is at the age of 4-7 years (52.6%) and then it decreases gradually. Non-seizure pathological activity with features of bioelectric immaturity was observed most frequently in the youngest children aged 1-3 years, especially in boys. The evolution of these changes was bidirectional: in most cases the tracings became normal within 4-5 years, in a lower number of cases seizure activity appeared.
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Mol Biol Cell
January 2025
Department of Cell Biology, Emory University, 615 Michael St, Atlanta, GA, USA, 30322.
Rare inherited diseases caused by mutations in the copper transporters (CTR1) or induce copper deficiency in the brain, causing seizures and neurodegeneration in infancy through poorly understood mechanisms. Here, we used multiple model systems to characterize the molecular mechanisms by which neuronal cells respond to copper deficiency. Targeted deletion of CTR1 in neuroblastoma cells produced copper deficiency that produced a metabolic shift favoring glycolysis over oxidative phosphorylation.
View Article and Find Full Text PDFNeurosurgery
January 2025
Department of Biomedical Sciences, Humanitas University, Milan, Italy.
Background And Objectives: Understanding and managing seizure activity is crucial in neuro-oncology, especially for highly epileptogenic lesions like isocitrate dehydrogenase (IDH)-mutant gliomas. Advanced MRI techniques such as diffusion tensor imaging (DTI) and neurite orientation dispersion and density imaging (NODDI) have been used to describe microstructural changes associated with epilepsy. However, their role in tumor-related epilepsy (TRE) remains unclear.
View Article and Find Full Text PDFHum 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 PDFCureus
December 2024
Clinical Research, National Institute of Neurology and Neurosurgery, Mexico City, MEX.
Anti-NMDA (N-methyl-D-aspartate) receptor encephalitis (ANRE) is a rare autoimmune condition targeting brain receptors, often linked to ovarian tumors in young women. In severe cases, it can lead to status epilepticus, but in sporadic cases, it may progress to super-refractory status epilepticus (SRSE), a dangerous state of continuous or repetitive seizures demanding urgent medical attention that continues or recurs more than 24 hours after the initiation of anesthetic therapy. We present a case report of anti-NMDA receptor limbic encephalitis-triggered SRSE terminated with vagus nerve stimulation (VNS) and titrated to high stimulation parameters in the immediate postoperative period.
View Article and Find Full Text PDFThe hippocampus forms memories of our experiences by registering processed sensory information in coactive populations of excitatory principal cells or ensembles. Fast-spiking parvalbumin-expressing inhibitory neurons (PV INs) in the dentate gyrus (DG)-CA3/CA2 circuit contribute to memory encoding by exerting precise temporal control of excitatory principal cell activity through mossy fiber-dependent feed-forward inhibition. PV INs respond to input-specific information by coordinating changes in their intrinsic excitability, input-output synaptic-connectivity, synaptic-physiology and synaptic-plasticity, referred to here as experience-dependent PV IN plasticity, to influence hippocampal functions.
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