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PubMed
Sudden Unexpected Death in Epilepsy (SUDEP) and Cardiovascular Dysfunction - Unraveling the Link: A Narrative Review -
Sudden unexpected death in epilepsy (SUDEP) represents a major cause of mortality in individuals with epilepsy, accounting for 8-17% of epilepsy-related deaths. Its multifactorial pathogenesis implicates autonomic dysfunction, impaired heart rate variability, seizure-related arrhythmias, genetic channelopathies, and the potential influence of antiepileptic drugs. Epidemiological studies demonst...
Abnormal KCC2 expression and function in a mouse model of epilepsy and tuberous sclerosis complex -
OBJECTIVE: Drug-resistant epilepsy is a common, severe manifestation of the genetic disorder tuberous sclerosis complex (TSC). Although significant mechanistic and therapeutic advances have been made in TSC, treatments for seizures remain largely ineffective. Decreased expression of the potassium-chloride cotransporter KCC2 is associated with depolarizing γ-aminobutyric acid (GABA) signaling an...
The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity -
Epilepsy comprises a highly heterogeneous group of neurological disorders unified by a persistent predisposition to recurrent seizures, yet driven by remarkably diverse genetic, molecular, and network-level mechanisms. Advances in genomic technologies have revealed that epilepsy arises from a multilayered genetic architecture encompassing rare high-penetrance monogenic variants, common polygeni...
Auditory-triggered reflex focal motor seizures after stroke: A video-EEG case -
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MRI-targeted focal transcranial magnetic stimulation reproducing habitual seizure semiology during presurgical evaluation: An instructive clinical vignette -
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Efficacy of synthetic ACTH in confirmed and presumed monogenic developmental and epileptic encephalopathies -
OBJECTIVE: Adrenocorticotropic hormone (ACTH) is an effective treatment for infantile epileptic spasms syndrome (IESS); however, its mechanism of action remains incompletely understood. This study aimed to evaluate ACTH treatment response at the level of protein-protein interactions (PPIs) in patients with confirmed and presumed monogenic developmental and epileptic encephalopathies (DEEs).
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