Author

Sabrina Pommer

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Open access Sep 2026

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 impaired inhibitory int...

Pascal Fenske, A. Abrahamyan, Konstantin L. Makridis et al. · Frontiers in Pharmacology · 0 citations

Open access Aug 2026

Subtype-specific downregulation of voltage-gated sodium channels shapes neuronal responses to neuroinflammation

The observations suggest that the consequences of NaV dysfunction are not only determined by their role in neuronal excitability but also depend on subtype-specific responses to inflammatory cues, shedding light on the relevance of inflammatory events in the onset and progression of epileptic syndromes related to NaV l...

D. Jacobsohn, David Guenoun, Nathalie Hertrich et al. · bioRxiv · 0 citations