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A Novel Variant of Congenital Disorder of Glycosylation Presenting with Psychomotor Retardation, Restricted Diffusion in the Brainstem and Corpus Callosal Malformation: A Case Report -
CONCLUSION: This case expands the radiological spectrum of ALG9-related CDG and highlights the importance of advanced neuroimaging and molecular diagnostics in children with unexplained developmental delay and epilepsy.
Tau spread plays an etiopathogenic connection between seizures and Alzheimer's disease -
Patients with Alzheimer's disease (AD) display heightened seizure susceptibility, in which neuronal hyperactivity during seizures correlates with exacerbated Tau pathology and cognitive impairment. This study integrated public transcriptomic datasets with machine learning approaches, suggesting Tau spread as a key biological association between seizure activity and AD. We validated activity-dep...
Bilateral cerebellar high-frequency rTMS for refractory epilepsy: a randomized, single-blind, sham-controlled study -
CONCLUSION: Active cerebellar rTMS was associated with reduced seizure frequency, improved responder rates, and suppressed IEDs in refractory epilepsy with no obvious discomfort. The optimal efficacy duration was approximately 2 months, with greater IED suppression in patients with higher baseline levels.
Risk factors for seizures in patients with brain metastases: integrating clinical features and molecular markers -
CONCLUSIONS: Our findings suggest an association between seizure risk and molecular status of the primary tumor, specifically BRAF mutations in melanoma and HER2+ breast cancer subtype. Additionally, we found an improved OS in BM patients experiencing seizures at onset of disease. These findings are exploratory and warrant confirmation in larger cohorts; this could help refine seizure-risk esti...
Lentivector transduction of hematopoietic stem/progenitor cells improves disease manifestations in mouse models of Farber disease and SMA-PME -
Farber disease (FD) is a progressive lysosomal storage disorder caused by deficient acid ceramidase (ACDase) activity. Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME) is also caused by biallelic variants of the ASAH1 gene, which encodes ACDase. ACDase deficiency leads to lysosomal accumulation of ceramide and the other lipids causing multi-system organ failure. Neurologica...
FLT3 Kinase Inhibition Reshapes the Neuronal Transcriptome to Suppress Seizures -
Approximately one-third of individuals with epilepsy are refractory to current anti-seizure medications, highlighting the need for new, mechanism-based therapeutic approaches. Fms-like tyrosine kinase 3 (FLT3), a receptor tyrosine kinase classically studied in hematopoiesis and leukemia, is also expressed in neurons, although its function in the brain remains largely unexplored. Our prior work ...
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