We have studied four patients (three male, one female, age range 15-25 years) with epilepsy, bilateral occipital calcifications and latent coeliac disease (CD). The epilepsy started at mean age 7 years, in three cases there were partial seizures and in one case generalized seizure. Three cases had symptoms suggesting malabsorptive syndrome during infancy and one case was diagnosed CD before the onset of seizures. In all cases serologic markers of CD were found, especially antiendomisium antibody, and intestinal biopsy indicated several grades of atrophy. The electroencephalograph (EEG) findings pointed to focal abnormalities in three patients and generalized abnormalities in one patient. In all cases computer tomography (CT) showed bilateral, almost symmetrical occipital calcifications in the cortical subcortical layers. The enhanced CT were unremarkable and magnetic resonance images (MRI) were normal. After diagnosis of CD, all patients followed a gluten-free diet and in three patients a significant reduction in seizure frequency was observed. CD should be ruled out in all cases of epilepsy, cerebral calcifications of unexplained origin and malabsorption syndrome in infancy.
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http://dx.doi.org/10.1016/s1059-1311(98)90008-5 | DOI Listing |
CNS Neurosci Ther
January 2025
Department of Neurology, School of Medicine, Guangzhou First People's Hospital, South China University of Technology, Guangzhou, China.
Objective: This study aims to investigate how the E3 ubiquitin ligase LITAF influences mitochondrial autophagy by modulating MCL-1 ubiquitination, and its role in the development of epilepsy.
Methods: Employing single-cell RNA sequencing (scRNA-seq) to analyze brain tissue from epilepsy patients, along with high-throughput transcriptomics, we identified changes in gene expression. This was complemented by in vivo and in vitro experiments, including protein-protein interaction (PPI) network analysis, western blotting, and behavioral assessments in mouse models.
EClinicalMedicine
August 2024
Department of Psychiatry, University of Oxford, Warneford Hospital, Warneford Lane, Oxford, OX3 7JX, United Kingdom.
Background: While semaglutide, approved for type-2 diabetes mellitus (T2DM), is being investigated as a treatment for brain disorders, concerns over adverse neuropsychiatric events have emerged. More data are therefore needed to assess the effects of semaglutide on brain health. This study provides robust estimates of the risk of neurological and psychiatric outcomes following semaglutide use compared to three other antidiabetic medications.
View Article and Find Full Text PDFBackground: Long QT Syndrome Type-2 (LQT2) is due to loss-of-function variants. encodes K 11.1 that forms a delayed-rectifier potassium channel in the brain and heart.
View Article and Find Full Text PDFencodes a UDP-galactose transporter essential for glycosylation of proteins and galactosylation of lipids and glycosaminoglycans. Germline genetic variants have been identified in congenital disorders of glycosylation and somatic variants have been linked to intractable epilepsy associated with malformations of cortical development. However, the functional consequences of these pathogenic variants on brain development and network integrity remain elusive.
View Article and Find Full Text PDFClin Genet
January 2025
Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan.
Heterozygous pathogenic variants in MBD5 (MIM*611472) and CCM2 (MIM*607929) cause autosomal dominant intellectual developmental disorder 1 (MIM#156200) and cerebral cavernous malformations-2 (MIM#603284), respectively. Both conditions may present with seizures, epilepsy, and status epilepticus. However, super-refractory status epilepticus, defined as seizures lasting more than 24 h, has not been described in either condition.
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