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Tremor as an intrinsic feature of juvenile myoclonic epilepsy.
Epilepsia
January 2025
Department of Medical Sciences, Institute of Neurology, Magna Græcia University, Catanzaro, Italy.
We aim to understand whether tremor may be an intrinsic feature of juvenile myoclonic epilepsy (JME) and whether individuals with JME plus tremor experience a different disease course. Thirty-one individuals with JME plus tremor (17 females, mean age = 33.9 ± 13.
View Article and Find Full Text PDFReconstruction and application of multilayer brain network for juvenile myoclonic epilepsy based on link prediction.
Cogn Neurodyn
December 2025
Department of Nuclear Magnetic Resonance, Lanzhou University Second Hospital, Lanzhou, 730030 China.
Unlabelled: Juvenile myoclonic epilepsy (JME) exhibits abnormal functional connectivity of brain networks at multiple frequencies. We used the multilayer network model to address the heterogeneous features at different frequencies and assess the mechanisms of functional integration and segregation of brain networks in JME patients. To address the possibility of false edges or missing edges during network construction, we combined multilayer networks with link prediction techniques.
View Article and Find Full Text PDFEngineered 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.
Article Synopsis
- The CDKL5 deficiency disorder (CDD) is a severe neurodevelopmental condition with symptoms including early epilepsy, intellectual disabilities, and motor/visual dysfunction, caused by mutations in the CDKL5 gene.
- Currently, there is no cure for CDD; treatments focus on managing seizures, though some genetic therapies show promise in addressing the disorder's root causes.
- Recent studies using Anticodon-edited tRNAs (ACE-tRNAs) have shown potential in restoring full-length CDKL5 protein synthesis, opening up possibilities for effective new treatments for patients with nonsense mutations.
Sialidosis type 1 in a Turkish family: a case report and review of literatures.
J Pediatr Endocrinol Metab
December 2024
Department of Neurology, Ankara Etlik City Hospital, Ankara, Türkiye.
Objectives: Sialidosis type 1 is a rare autosomal recessive lysosomal storage disorder caused by pathogenic variants in the gene, which encodes the sialic acid-degrading enzyme α-neuraminidase. Sialidosis type 1 is a milder form with a late-onset phenotype, characterized by progressive myoclonic epilepsy and ataxia with cherry-red spots. Sialidosis type 2 is an early-onset and more severe form presenting with dysmorphic features, hepatosplenomegaly and cognitive delay.
View Article and Find Full Text PDFThe Use of Perampanel in the Treatment of Lance-Adams Syndrome.
J Epilepsy Res
December 2024
Department of Neurology, Comprehensive Epilepsy Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Lance Adams syndrome (LAS) is characterized by chronic action or intention myoclonus resulting from cerebral hypoxia. Perampanel, a non-competitive antagonist of aamino-3-hydroxy-5methyl-4 isooxazoleproprionic acid glutamate receptor, has demonstrated some efficacy in myoclonic epilepsy and other types of myoclonus. We report significant benefit in a patient with LAS treated with add on perampanel and provide a review of the relevant literature.
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