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Engineered tRNAs efficiently suppress CDKL5 premature termination codons.
Sci Rep
December 2024
Department of Medical Biotechnology and Translational Medicine, University of Milan, Segrate (Milan), 20054, Italy.
The CDKL5 deficiency disorder (CDD) is a severe neurodevelopmental disorder characterized by early-onset epilepsy, intellectual disability, motor and visual dysfunctions. The causative gene is CDKL5, which codes for a kinase required for brain development. There is no cure for CDD patients; treatments are symptomatic and focus mainly on seizure control.
View Article and Find Full Text PDFCausal Relationships Between Epilepsy, Anti-Epileptic Drugs, and Serum Vitamin D and Vitamin D Binding Protein: A Bidirectional and Drug Target Mendelian Randomization Study.
CNS Neurosci Ther
December 2024
Department of Neurosurgery, SanBo Brain Hospital, Capital Medical University, Beijing, China.
Aims: Previous studies suggest potential associations between epilepsy, anti-epileptic drugs (AEDs), and levels of vitamin D and vitamin D-binding protein (VDBP). This study aims to investigate the causal relationships among these variables using Mendelian Randomization (MR) methods.
Methods: Using summary data from genome-wide association studies on serum 25-hydroxyvitamin D [25(OH)D] levels (N = 417,580), VDBP concentrations (N = 65,589), and various types of epilepsy (Ncases = 27,559), MR analyses were conducted to determine bidirectional causal relationships among these variables.
Restricted Cortical Activity Involving Parietal Lobe and Sublobar Region Leads to Generalized Spike-Wave Discharges of Juvenile Myoclonic Epilepsy: Evidence from an EEG Source Localization Study.
Neurol India
September 2024
Department of Neurology, Atal Bihari Vajpayee Institute of Medical Sciences and Dr. Ram Manohar Lohia Hospital, New Delhi, India.
Background: Previous studies have localized the origin of "generalized" spike-wave discharges of idiopathic generalized epilepsies to specific brain regions. Although there are studies in juvenile myoclonic epilepsy (JME) which have investigated the origin of spike-wave discharges, reports on the propagation of discharges are sparse.
Objective: The current study investigated the propagation of spike-wave discharges in JME, which was investigated by statistically comparing the electroencephalography (EEG)-derived cortical source activity during (a) various phases of spike-wave discharge versus background (eyes closed) activity, and (b) various phases of the first spike wave versus the corresponding phase of subsequent spike waves.
Quantitative MRI Measures and Cognitive Function in People With Drug-Resistant Juvenile Myoclonic Epilepsy.
Neurology
October 2024
From the Department of Neurology, Neurointensive Care and Neurorehabilitation (B.C.P., G.K., J.H., L.R., E.T.), Neuroscience Institute (B.C.P., G.K., J.H., M.K., E.T.), and Department of Child and Adolescent Psychiatry (L.R.), Christian Doppler University Hospital, Paracelsus Medical University, Centre for Neuroscience Salzburg, Member of the European Reference Network, EpiCARE, Austria; Department of Clinical & Experimental Epilepsy (B.C.P., F.X., L.C., J.S.D., M.J.K., B.W.), UCL Queen Square Institute of Neurology, London; Chalfont Centre for Epilepsy (B.C.P., F.X., L.C., J.S.D., M.J.K., B.W.), Chalfont St. Peter, United Kingdom; Department of Neurology (L.C.), Inselspital, Sleep-Wake-Epilepsy-Center, Bern University Hospital, University of Bern, Switzerland; Department of Psychology (M.K.), University of Salzburg, Austria; Department of Neurology (C.V.), Epilepsy Center, University Hospital of the Ludwig-Maximilians-University of Munich, Germany; Department of Public Health, Health Services Research and Health Technology Assessment (E.T.), UMIT-University of Health Sciences, Medical Informatics and Technology, Hall in Tirol; and Karl Landsteiner Institute for Neurorehabilitation and Space Neurology (E.T.), Salzburg, Austria.
Background And Objectives: Neuroimaging studies have so far identified structural changes in individuals with juvenile myoclonic epilepsy (JME) when compared with controls. However, the underlying mechanisms of drug-resistant JME remain unknown. In this study, we aimed at characterizing the structural underpinnings of drug-resistant JME using MRI-derived cortical morphologic markers.
View Article and Find Full Text PDFInternal Carotid Artery Hypoplasia Misidentified as Internal Carotid Artery Dissection.
Methodist Debakey Cardiovasc J
September 2024
Houston Methodist DeBakey Heart & Vascular Center, Houston Methodist, Houston, Texas, US.
Agenesis or hypoplasia of the internal carotid artery (ICA) may easily be confused with dissection or occlusion. We report a case of a 24-year-old female with complaint of acute left-hand hypoesthesia and a history of occasional intermittent numbness of her right hand with myoclonic jerking. Because previous imaging studies over 2 years were interpreted as occlusion of the left ICA secondary to carotid dissection, the treating physician had prescribed anticoagulant therapy.
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