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Differential Inhibition by Cenobamate of Canonical Human Nav1.5 Ion Channels and Several Point Mutants.
Int J Mol Sci
January 2025
Department of Anatomy, Animal Physiology and Biophysics, Faculty of Biology, University of Bucharest, Splaiul Independentei 91-95, 050095 Bucharest, Romania.
Cenobamate is a new and highly effective antiseizure compound used for the treatment of adults with focal onset seizures and particularly for epilepsy resistant to other antiepileptic drugs. It acts on multiple targets, as it is a positive allosteric activator of γ-aminobutyric acid type A (GABA) receptors and an inhibitor of neuronal sodium channels, particularly of the late or persistent Na current. We recently evidenced the inhibitory effects of cenobamate on the peak and late current component of the human cardiac isoform hNav1.
View Article and Find Full Text PDFA conifer metabolite corrects episodic ataxia type 1 by voltage sensor-mediated ligand activation of Kv1.1.
Proc Natl Acad Sci U S A
January 2025
Bioelectricity Laboratory, Department of Physiology and Biophysics, School of Medicine, University of California, Irvine, CA 92697.
Loss-of-function sequence variants in , which encodes the voltage-gated potassium channel Kv1.1, cause Episodic Ataxia Type 1 (EA1) and epilepsy. Due to a paucity of drugs that directly rescue mutant Kv1.
View Article and Find Full Text PDFReliable detection of directional couplings using cross-vector measures.
Chaos
January 2025
Jožef Stefan Institute, Jamova cesta 39, SI-1000 Ljubljana, Slovenia.
Detecting directional couplings from time series is crucial in understanding complex dynamical systems. Various approaches based on reconstructed state-spaces have been developed for this purpose, including a cross-distance vector measure, which we introduced in our recent work. Here, we devise two new cross-vector measures that utilize ranks and time series estimates instead of distances.
View Article and Find Full Text PDFMultiple Subpial Transection for the Treatment of Landau-Kleffner Syndrome-Review of the Literature.
J Clin Med
December 2024
Department of Correct, Clinical and Imaging Anatomy, Medical University of Lublin, ul. Jaczewskiego 4, 20-090 Lublin, Poland.
As speech-related symptoms of Landau-Kleffner syndrome (LKS) are often refractory to pharmacotherapy, and resective surgery is rarely available due to the involvement of the vital cortex, multiple subpial transection (MST) was suggested to improve patient outcome and preserve cortical functions. Here, we analyze the reports about MST use in LKS, regarding its impact on seizures, language, behavior, EEG, cognition, and reported adverse effects. In conditions like LKS, surgery is not a popular treatment option and presumably should be considered sooner.
View Article and Find Full Text PDFTwo Different Brain Injury Patterns Associated with Compound Heterozygosis of the PIGO Gene in a Term Newborn: A Case Report.
Biomedicines
December 2024
Diagnostic and Interventional Neuroradiology Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
The glycosylphosphatidylinositol (GPI) is a glycol-lipid that anchors several proteins to the cell surface. The GPI-anchor pathway is crucial for the correct function of proteins involved in cell function, and it is fundamental in early neurogenesis and neural development. The PIG gene family is a group of genes involved in this pathway with six genes identified so far, and defects in these genes are associated with a rare inborn metabolic disorder manifesting with a spectrum of clinical phenotypes in newborns and children.
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