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Human TSC2 mutant cells exhibit aberrations in early neurodevelopment accompanied by changes in the DNA Methylome.
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 PDFHypersensitivity Reactions to Anticonvulsants.
Curr Allergy Asthma Rep
January 2025
Rochester Regional Health, Rochester, NY, USA.
Background: Antiepileptics are the mainstay of treatment for seizure management. Immediate and delayed hypersensitivity reactions associated with antiepileptics are common. It is important to differentiate between these reactions as management and prognosis varies.
View Article and Find Full Text PDFDurable suppression of seizures in a preclinical model of KCNT1 genetic epilepsy with divalent small interfering RNA.
Epilepsia
January 2025
Atalanta Therapeutics, Boston, Massachusetts, USA.
Objective: Gain-of-function variants in the KCNT1 gene, which encodes a sodium-activated potassium ion channel, drive severe early onset developmental epileptic encephalopathies including epilepsy of infancy with migrating focal seizures and sleep-related hypermotor epilepsy. No therapy provides more than sporadic or incremental improvement. Here, we report suppression of seizures in a genetic mouse model of KCNT1 epilepsy by reducing Kcnt1 transcript with divalent small interfering RNA (siRNA), an emerging variant of oligonucleotide technology developed for the central nervous system.
View Article and Find Full Text PDFThe Prognostic Factors in Children With Status Epilepticus and Status Epilepticus Severity Score Scales.
Behav Neurol
January 2025
Department of Pediatric Psychology, College of Medicine, Balcalı Hospital, Çukurova University, Adana, Turkey.
According to the International League Against Epilepsy (ILAE) 2015 classification, status epilepticus (SE) is a seizure that lasts longer than 5 min or a frequency of more than one seizure within 5 min, without returning to a normal level of consciousness between episodes. In this study, we aimed to evaluate the prognostic factors of SE and compare our patients with those of patients treated internationally with the modified status epilepticus severity score (mSTESS) to determine the reliability of this scoring system. The medical records of patients aged 1 month-17 years with SE who were treated at Çukurova University-Balcalı Training and Research Hospital between September 2018 and September 2021 and who were followed in the intensive care unit were included in the study.
View Article and Find Full Text PDFZebrafish models of genetic epilepsy benefit from the ability to assess disease-relevant knock-out alleles with numerous tools, including genetically encoded calcium indicators (GECIs) and hypopigmentation alleles to improve visualization. However, there may be unintended effects of these manipulations on the phenotypes under investigation. There is also debate regarding the use of stable loss-of-function (LoF) alleles in zebrafish, due to genetic compensation (GC).
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