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Author

C. Boßelmann

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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 interne...

Pascal Fenske, A. Abrahamyan, Konstantin L. Makridis et al. · 0 citations
Open access Aug 2026

Accurate prediction of gain- and loss-of-function missense variants in GABAA receptors

Summary Background Missense variants in genes encoding GABAA receptors are involved in the pathophysiology of common and rare epilepsies. Variant effects on channel biophysical function are associated with key clinical characteristics and treatment response. Predicting variant effects is therefore key to improving care...

C. Boßelmann, S. Ortiz, R. Dahl et al. · 0 citations
Open access Aug 2026

Correlation of polygenic risk score and clinical phenotype in patients with genetic generalized epilepsy.

No meaningful association between PRS and age at onset, history of febrile seizures, pre-/perinatal complications, epilepsy syndromes, seizure types, co-occurrence of functional/dissociative seizures, psychiatric comorbidities, electroencephalographic/magnetic resonance imaging findings, or drug response could be demon...

Sophie von Brauchitsch, Nils Hartung, R. Karge et al. · 0 citations
Jul 2026

Environmental and treatment-related factors associated with developmental outcomes in genetic epilepsies.

The findings highlight genetic NDDs as genome-informed yet exposure-sensitive disorders and several external factors that both represent markers of epilepsy severity and may support early, genetically informed seizure management and careful stewardship of treatment exposures.

C. Boßelmann, Natasha N. Ludwig, C. Holingue et al. · 0 citations
Aug 2026

Early clinical prediction of neurodevelopmental outcome in KCNQ2-related disorders

These prediction models demonstrate the feasibility of early prognostication in KCNQ2-RD and support future prospective external validation and enable more accurate individualised counselling by integrating clinical and genetic information readily available at time of genetic diagnosis.

E. Van Boxstael, C. Millevert, M. Hairabedian et al. · 0 citations

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