3 hasil untuk "Pascal Fenske"
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Artikel Jurnal
Cenobamate in Dravet syndrome with electrophysiologically confirmed SCN1A loss-of-function variants: long-term real-world follow-up
Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy (DEE) characterized by seizures and developmental delay/regression, primarily caused by loss-of-function (LoF) variants in the SCN1A gene, which encodes the Nav1.1 sodium channel. Hyperexcitability in DS results from…
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Artikel Jurnal
Implementation of a digital health tool for seizure video transfer in a pediatric epilepsy center: A prospective pilot study
Home videos are increasingly presented in clinical practice, and secure digital tools for clinical video sharing are urgently needed. This study evaluated the feasibility of a secure video-sharing digital platform in pediatric epilepsy diagnostics. We conducted a prospective pilot study that…
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Artikel Jurnal
Autaptic cultures of human induced neurons as a versatile platform for studying synaptic function and neuronal morphology
Abstract Recently developed technology to differentiate induced pluripotent stem cells (iPSCs) into human induced neurons (iNs) provides an exciting opportunity to study the function of human neurons. However, functional characterisations of iNs have been hampered by the reliance on mass culturing…