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Early sodium channel blocker initiation is associated with better outcomes in KCNQ2 disorders -
Pathogenic KCNQ2 variants are the most common genetic cause of neonatal-onset epilepsies, with phenotypes ranging from self-limited (familial) neonatal epilepsy (SeL(F)NE) to severe developmental and epileptic encephalopathy (KCNQ2-DEE). Sodium channel blockers (SCBs) have shown promise for seizure control in these disorders, but their impact on neurodevelopmental outcomes and possible relation...
A global literature review of comorbidities and concomitant supportive medications among individuals with Rett syndrome -
Aim: To synthesize evidence on the multisystem clinical burden of Rett syndrome, integrating comorbidity prevalence and concomitant medication use to inform proactive care. Materials & methods: A structured search of PubMed, Embase and Cochrane (January 2000 to July 2024), plus gray literature, identified clinical trials, observational studies, registries, and case series (n >10). Non-English a...
Electrophysiological, neurocognitive, and GFAP biomarker responses to corticosteroid therapy in children with ESES/CSWS -
Developmental and/or epileptic encephalopathy with spike-wave activation during sleep (DE SWAS), including electrical status epilepticus during sleep (ESES/CSWS), is associated with seizures, neurocognitive regression, and characteristic electroencephalographic abnormalities. This study aimed to evaluate the clinical, electrophysiological, neurocognitive, and molecular response to corticosteroi...
Photosensitive response mouse model: A potential tool for studying mechanisms of photosensitive epilepsy and initial screening of anti-epileptic drugs -
Numerous studies have investigated the mechanisms underlying photosensitive epilepsy, yet they remain poorly understood. Progress in this field has been substantially hampered by the scarcity of valid animal models and the difficulty in establishing them. Here we presented flashing lights at varying frequencies to head-fixed mice while recording local field potentials (LFPs) in the primary visu...
Heart rate variability in epilepsy and its association with disease duration: a retrospective case-control study -
CONCLUSION: Patients with epilepsy exhibit HRV abnormalities characterized by reduced SDNN, and prolonged disease duration is associated with reduced SDNN. As a simple and non-invasive parameter, SDNN may be useful in reflecting autonomic regulation status in patients with epilepsy and in providing supplementary information for clinical evaluation. However, due to the limitations of the retrosp...
STXBP1 Variants Associated With Epilepsy With Variable Severity -
CONCLUSIONS: STXBP1 variants may underlie epilepsies of variable severity, extending from milder epilepsy syndromes to DEE. Clinical severity broadly tracks with the predicted structural/biophysical impact of the variant and Munc18-1 abundance, providing a mechanistic clue for phenotypic heterogeneity in STXBP1-related disorders.
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