Results 61 to 70 of about 9,841 (192)
The significance of focal pattern in hypsarrhythmia
Brain DisordersIntroduction: Infantile Epileptic Spasms Syndrome (IESS) presents a therapeutic challenge and is frequently associated with developmental delay. It is characterized by seizures and hypsarrhythmia on the EEG and has multiple etiologies that influence ...
Anna Wiedemann +2 more
doaj +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa +7 more
wiley +1 more source
Clinical Genetics, EarlyView.We found key differences between tuberous sclerosis patients with TSC1 and TSC2 variants. Patients carrying TSC2 variants had more severe and earlier‐onset symptoms. We also identified two distinct clinical subgroups which follow different disease courses: one characterized by predominant renal involvement and the other by more pronounced neurological ...
Hila Weisblum Neuman +6 more
wiley +1 more source
Chinese Journal of Contemporary Neurology and Neurosurgery, 2012 Objective To explore the possible correlation between the genetic variations of the melanocortin receptors (MCRs, including MC2R, MC3R and MC4R) and adrenocorticotropic hormone (ACTH) responsiveness in patients with infantile spasms, and to investigate ...
Xiu⁃yu SHI +4 more
doaj
Oral findings in West syndrome – A Case Report
Brazilian Dental Science, 2017 West syndrome is a severe form of epilepsy syndrome which is characterized by triad of infantile spasms, EEG findings (hypsarrhythmia) and developmental delay.
Sheetal Dilip Badnaware +3 more
doaj +1 more source
European Journal of Clinical Investigation, EarlyView.Globally, in 2021, there were 18.15 million prevalent cases of epilepsy in children and adolescents (8.24 and 9.91 million of idiopathic and secondary epilepsy, respectively). Between 1990 and 2021, the prevalence rate of secondary epilepsy increased by 16.14%, with especially high increases attributable to neonatal encephalopathy, neonatal jaundice ...
Yun Seo Kim +10 more
wiley +1 more source
Epileptogenesis in meningioma: Theories, putative biomarkers, and postoperative risk
Epilepsia, EarlyView.Abstract Cranial meningioma are the most common type of primary brain tumor, and focal onset, tumor‐related seizures affect a significant proportion of patients. Seizures affect 30% of symptomatic preoperative patients and a further 12% of postoperative patients.
William H. Cook +5 more
wiley +1 more source
Current Issues in Molecular BiologyWe profiled the gene expressions in the hypothalamic paraventricular nuclei of 12 male and 12 female pups from a standard rat model of infantile spasms to determine the sex dichotomy of the neurotransmission genomic fabrics.
Dumitru Andrei Iacobas +6 more
doaj +1 more source
Absence seizures and sleep–wake abnormalities in a rat model of GRIN2B neurodevelopmental disorder
Epilepsia, EarlyView.Abstract Objective Pathogenic mutations in GRIN2B are an important cause of severe neurodevelopmental disorders resulting in epilepsy, autism, and intellectual disability. GRIN2B encodes the GluN2B subunit of N‐methyl‐d‐aspartate receptors (NMDARs), which are ionotropic glutamate receptors critical for normal development of the nervous system and ...
Katerina Hristova +12 more
wiley +1 more source