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The authors' findings reveal separable effects on TLR trafficking, downstream signalling and inflammasome activation, identifying CNPY3 as a key regulator of multiple cellular pathways involved in inflammatory responses and neurodevelopment.
OBJECTIVE Functional (dissociative) seizures (FDS) are increasingly recognized among individuals with epilepsy, intellectual disability (ID), and psychiatric disorders, but their occurrence in PCDH19-clustering epilepsy (CE) has not been systematically described. We aimed to characterize the clinical features, diagnost...
This comprehensive characterization of brain MRI abnormalities in SCN2A disease revealed distinct imaging patterns across phenotypic subgroups that highlight the importance of early seizure control, guide counselling of patients and families, and inform MRI interpretation and biomarker research for future clinical tria...
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