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Heterogeneity of monogenic epilepsy in loci, phenotypes, and treatment approaches -
No abstract
Semiological value of rhythmic ictal non-clonic hand (RINCH) motions in epileptic seizures -
CONCLUSION: RINCH motions represent an uncommon but distinctive manifestation of epileptic seizures, often accompanied by impaired awareness, automatisms and aphasia. These movements typically occur in the hand contralateral to the seizure onset zone. The most frequent seizure onset localisation is the left temporal lobe (dominant) in right-handed patients.
The TGFB1-Wnt/β-catenin axis programs a neuroprotective IGF1+ microglial state during epileptogenesis -
Temporal lobe epilepsy (TLE) remains a major clinical challenge, with over one-third of patients resistant to existing medications. Microglia, the brain's resident immune cells, are highly plastic, yet their potential to adopt a protective state in epilepsy is unclear. Using time-resolved single-nucleus RNA sequencing (snRNA-seq) in a kainic acid (KA)-induced seizure model, we identified an ear...
Functional connectivity in self-limited epilepsy with centrotemporal spikes increases with epilepsy duration and interictal spike exposure -
OBJECTIVE: To determine whether persistent exposure to interictal spikes is associated with progressive changes in functional connectivity in children with self-limited epilepsy with centrotemporal spikes (SeLECTS).
Serum NfL, GFAP, and p-tau217 in adults with drug-resistant epilepsy and intellectual disabilities: Signs of ongoing neural injury -
OBJECTIVE: Adults with epilepsy and intellectual disabilities (IDs) may be at increased risk of dementia, but clinical evaluation is complex and use of conventional biomarkers is often considered too invasive. We explored abnormality of serum neurofilament light chain (NfL), glial fibrillary acidic protein (GFAP), and phosphorylated tau-217 (p-tau217) in these adults, and their associations wit...
DTaP-induced infantile epileptic spasms syndrome high-risk window: Insights from school-age children -
To determine the specific high-risk characteristics and temporal window associated with Diphtheria, Tetanus, and acellular Pertussis (DTaP) vaccine-precipitated infantile epileptic spasms syndrome (IESS), providing evidence for optimizing vaccination safety strategies, we conducted a multicenter retrospective cohort study of 564 patients with long-term follow-up (6.5-10.5 y). Patients were stra...
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