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Author

Holger Lerche

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Review Open access Sep 2026

9.4-Tesla magnetic resonance imaging in focal epilepsy patients with high-resolution surface-based profiling of focal cortical dysplasias.

UHF T2*-weighted sequences may be useful to detect the black line sign and thereby refine surgical or ablation targeting for some FCDs and may improve diagnostic yield of 9.4-Tesla MRI.

Cornelius Kronlage, Pascal Martin, Benjamin Bender 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

STX1B variant-specific synaptic dysfunction is associated with network hyperexcitability in human iPSC-derived neurons

The divergence between morphological, electrophysiological and transcriptomic findings suggests that compensatory mechanisms may contribute to network hyperexcitability, and the graded severity of network alterations across STX1B variants correlates with the clinical phenotypes.

Carolin Haag, Felix Gsell, Oleg Vinogradov 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

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