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White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy -
OBJECTIVE: Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique opportunity to determine whether neonates experien...
No link between piriform cortex subregion resection and seizure freedom in two cohorts with temporal lobe epilepsy -
CONCLUSION: No association between ILAE outcome and the resected proportion of specific mesiotemporal structures was detected. This result was robust across cohorts, piriform cortex definitions and analytical approaches. These results differ from previous reports and suggest that piriform cortex resection should be considered on an individualized basis rather than routinely incorporated into te...
Evaluating large language models for diagnostic reasoning from unstructured clinical narratives in epilepsy -
CONCLUSIONS: Overall, SemioLLM provides a scalable, domain-adaptable framework for evaluating LLMs in clinical disciplines where unstructured verbal descriptions encode diagnostic information. By identifying both the strengths and limitations of LLMs, our work contributes to testing the applicability of foundational AI systems for healthcare.
Targeting MEF2A suppresses microglial hyperactivation and synaptic phagocytosis to attenuate epilepsy pathogenesis -
Microglia's role in epilepsy through neuroimmune communication is poorly understood. Mechanisms by which neurons activate microglia and how microglia affect neuronal activity to drive seizure-related inflammation remain unclear. Here, we elucidated a crucial axis connecting pathological adenosine triphosphate (ATP) release induced by epileptiform neuronal activity to microglial MEF2A-dependent ...
Autoimmune encephalitis-associated epilepsy with glutamic acid decarboxylase autoantibodies and type 1 diabetes mellitus: A comprehensive systematic scoping review of a clinical syndrome -
CONCLUSION: The syndrome of GAD-AAB-associated AEAE/S + T1DM exhibits age-dependent variations in clinical presentation with predominantly focal temporal seizures. People with T1DM should be screened for AINS, and those with AEAE/S for autoimmune (endocrine) disorders. A comprehensive immunological assessment guides diagnosis and targeted therapy.
SLC6A1-Related Neurodevelopmental Disorder: A Scoping Review of Clinical Features and Emerging Therapeutic Strategies -
CONCLUSIONS: As a severe developmental and epileptic encephalopathy, SLC6A1-related neurodevelopmental disorder is defined by a specific functional loss of GABA transport. This clear mechanistic substrate has allowed for the development of a highly focused translational pipeline, ranging from gene therapies to pharmacological chaperones. Critical gaps include the absence of prospective natural ...
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