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Modeling and correction of protein conformational disease in iPSC-derived neurons through personalized base editing.
Mol Ther Nucleic Acids
March 2025
NYU Cardiovascular Research Center, NYU Grossman School of Medicine, New York, NY 100016, USA.
Altered protein conformation can cause incurable neurodegenerative disorders. Mutations in , the gene encoding neuroserpin, can alter protein conformation resulting in cytotoxic aggregation leading to neuronal death. Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is a rare autosomal dominant progressive myoclonic epilepsy that progresses to dementia and premature death.
View Article and Find Full Text PDFSialidosis 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 PDFManagement and outcomes among older adults with generalized epilepsy in routine clinical practice.
Epilepsia Open
December 2024
Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, Ohio, USA.
Generalized epilepsy is classically thought of as a disease of the young and adolescent, with rarely reported cases among older adults. We aimed to analyze management and outcomes in a population sparsely described in the literature through a retrospective single-center cohort design. After excluding individuals without follow-up, we identified 151 people ≥50 years at the time of electrographically confirmed generalized epilepsy.
View Article and Find Full Text PDFPhenotypic traits and family history in patients with 22q11.2 deletion syndrome and generalized epilepsy: A multicenter case-control study.
Epilepsia
December 2024
Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.
Objective: This study was undertaken to characterize the clinical and genetic features of patients with 22q11.2 deletion syndrome (22q11.2DS) and generalized epilepsy compared with 22q11.
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