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Sponsored AI Networking Cookbook: Practical recipes for AI-assisted network automation and development AI Networking Cookbook: Practical recipes for AI-assisted network automation and development

Author

Angela M. Kaindl

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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. · 0 citations
Open access Sep 2026

Autosomal recessive HOXA3 deficiency causes congenital athymia and laryngeal malformation.

BACKGROUND Approximately 10% of patients with Severe Combined Immunodeficiency (SCID) phenotype lack a known genetic cause. In particular, the molecular basis of thymic defects is poorly understood. Homeobox (HOX) genes encode conserved transcription factors that control spatial body development. The function of human...

Sarah S. Dinges, M. Bosticardo, Anke Hirschfelder et al. · 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. · 0 citations

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