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Epilepsy associated with SYNGAP1 gene variants: clinical features of six cases and a literature review -
CONCLUSIONS: Myoclonic seizures, absence seizures, and eyelid myoclonia are common in SYNGAP1-related epilepsy. Valproate is generally effective, but combination therapy is often required. Neurodevelopmental impairment shows limited improvement despite seizure control.
Pulvinar subdivisions and connectivity patterns across primate species: a comparative perspective -
With the advances in our ability to perturb brain activity in recent years, new stimulation techniques have become essential tools in human neuroscience. Non-invasive stimulation methods, such as transcranial magnetic stimulation (TMS), as well as deep brain stimulation (DBS) delivered invasively to access deep brain structures, have been applied in both basic and clinical research and in the t...
Transcranial Magnetic Stimulation as a Translational Biomarker in Early-Phase Anti-Seizure Medication Development: A Randomized, Double-Blind, Placebo-Controlled Study in Generalized Epilepsy -
One-third of epilepsy patients remain treatment-resistant, underscoring the need for novel anti-seizure medications (ASMs) and reliable biomarkers of central target engagement. Cortical hyperexcitability is a hallmark of epilepsy, making excitability a valuable pharmacodynamic biomarker for early-phase drug development supporting go/no-go decision making. Building upon prior transcranial magnet...
Case Study 12: A 57-Year-Old Man With Seizures, Paranoid Psychosis, and Catatonia -
No abstract
Identification of Mitochondrial Dysfunction-Related Candidate Biomarkers and Analysis of the Immune Cell Infiltration in Epilepsy -
Epilepsy is a severe neurological disorder with complex pathogenesis. Mitochondrial dysfunction (MitD) is increasingly recognized as a key driver of epileptogenesis and seizure generation, contributing to neuronal hyperexcitability and network instability. However, the potential mechanisms linking MitD to epilepsy remain incompletely understood. This study aimed to identify MitD-related biomark...
Evaluation of metformin for epilepsy prevention or seizure control in people without evidence of diabetes: retrospective cohort study -
CONCLUSIONS: Metformin could have repurposed benefits in epilepsy. This warrants further investigation.
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