Search results for "epilepsy"
showing 10 items of 420 documents
Epilepsy: A Multifaced Spectrum Disorder
2023
Epilepsy is one of the most widespread chronic conditions, affecting about 50 million people worldwide [...]
Combined spike-related functional MRI and multiple source analysis in the non-invasive spike localization of benign rolandic epilepsy.
2007
Abstract Objective To localize the irritative zone in children by combined spike-related fMRI and EEG multiple source analysis (MSA) in children with benign rolandic epilepsy. Methods Interictal spikes were averaged and localized using MSA, and source locations were displayed in the anatomical 3D-MRI in 11 patients (5–12 yrs, median 10). Interictal spikes were additionally recorded during the fMRI acquisition (EEG-fMRI), and the fMRI sequences were correlated off-line with the EEG spikes. Results MSA revealed an initial central dipole in all patients, including the face or hand area. A second dipolar source was mostly consistent with propagated activity. BOLD activations from EEG-fMRI, cons…
Panniculitis due to potassium bromide.
1998
Potassium bromide again is well known to be surprisingly effective in patients with severe myoclonic epilepsy in infants (SME). Rare side effects on the skin reappeared, such as the febrile nodular panniculitis (Weber-Christian syndrome). In 1993 we described the first three cases of necrotizing panniculitis and introduced the term 'halogen panniculitis'. It is a systemic disease with crops of subcutaneous nodules, fever, elevated sedimentation rate, hepatosplenomegalia, and abdominal pain. Later severe necrosis of the skin and adipose tissue may happen with deep ulcerations. History and course of five cases, described in this paper, suggest either an allergy or toxic reason. Histologic pic…
Interrelations between globus pallidus and hippocampal epilepsy in the cat (1)
1984
AbstractElectrically induced afterdischarge (ADs) were evoked in the cats' dorsal hippocampus. The action of the conditioning prestimulation of the pallidus nucleus on AD duration was studied. A significant facilitatory influence was observed when pallidal conditioning stimulation immediately preceded hippocampal test stimulation. The time course of the phenomenon showed a decrease of the conditioning action when the interval between the two stimulations increased: complete disappearance of the effect occurred after about 800 ms. Results are discussed as far as functional relationships between basal ganglia and rhinencephalic system are concerned.
Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures
2020
Introduction: Mutations in the contactin-associated protein-like 2 (CNTNAP2) gene (MIM#604569) encoding for CASPR2, a cell adhesion protein of the neurexin family, are known to be associated with autism, intellectual disability, and other neuropsychiatric disorders. A set of intronic deletions of CNTNAP2 gene has also been suggested to have a causative role in individuals with a wide phenotypic spectrum, including Pitt-Hopkins syndrome, cortical dysplasia–focal epilepsy syndrome, Tourette syndrome, language dysfunction, and abnormal behavioral manifestations. Case presentation: A 10-years-old boy was referred to the hospital with mild intellectual disability and language impairment. Moreove…
Oral Manifestations of Wolf-Hirschhorn Syndrome: Genotype-Phenotype Correlation Analysis
2020
Background: Wolf-Hirschhorn syndrome (WHS) is a rare disease caused by deletion in the distal moiety of the short arm of chromosome 4. The objectives of this study were to report the most representative oral findings of WHS, relate them with other clinical characteristics of the disease, and establish possible phenotype-genotype correlation. Methods: The study was conducted at 6 reference centers distributed throughout Spain during 2018&ndash
Letter to the Editor Regarding the Article Whole-Exome Sequencing in NF1-Related West's Syndrome Leads to the Identification of KCNC2 as a Novel Cand…
2020
Effect of genetics polymorphism of carbamazepine – metabolizing enzymes in epileptic patients
2013
Loss of input from the mossy cells blocks maturation of newly generated granule cells.
2007
The objective of this work is to check whether the input from the mossy cells to the inner molecular layer is necessary for the integration and maturation of the newly generated granule cells of the dentate gyrus (DG) in mice, and if after status epilepticus the sprouting of the mossy fibers can substitute for this projection. Newly generated cells were labeled by administration of 5-bromo-deoxyuridine either before or after pilocarpine administration. The neuronal loss in the hippocampus after administration of pilocarpine combined with scopolamine and diazepam seemed restricted to the hilar mossy cells. The maturation of the granule cells was studied using immunohistochemistry for calreti…