Degeneracy
Different configurations, same result.
| Work | Finding |
| Y-chromosome mosaicism in MOGHE (Epilepsia 2026) | A second, genomically unrelated route reaches the same lesion that SLC35A2 mosaicism produces. |
| Brain somatic SLC35A2 variants in MOGHE (Acta Neuropathol Commun 2021) | One route into the lesion, present in a subset of patients. |
| 1386 epileptogenic brain lesions, DYRK1A and EGFR (Nat Commun 2024) | Recurrent variants including DYRK1A and EGFR across lesion types at scale. |
| Genomic landscape across 474 lesions (Brain 2022) | The distribution of somatic variants across the surgical spectrum. |
Convergence
Different routes, one measurable output.
| Work | Finding |
| Epigenetic age acceleration in epilepsy (preprint at ResearchSquare) | Epigenetic age is accelerated in epileptic brain tissue across different structural brain lesions. |
| DNA methylation-based classification of MCD (Acta Neuropathol 2022) | One measurement separates entities that different genomic events produce. |
| Diagnostic intracranial EEG biomarker in MOGHE (MedRxiv) | A reproducible electrophysiological correlate of the histology, present across genomic routes and effectively absent in other lesions. The shared output is functional, not only molecular. |
| SLC35A2 protein loss in the white matter (Acta Neuropathol 2025) | A shared cellular consequence downstream of the genomic cause. |
| Small leucine-rich proteoglycans and the lesion environment (Nat Commun 2023) | Different etiologies converge on similar changes in the mechanical properties of the tissue (stiffness), and those properties constrain what cells can do. |
Standards and synthesis
Definitions and reviews the field works with.
| Work | Finding |
| ILAE classification of focal cortical dysplasia (Epilepsia 2022) | The definitions the field now uses. |
| Epigenetic genes and epilepsy (Nat Rev Neurol 2022) | The state of the evidence linking chromatin regulation to seizures. |
| Neocortical development and epilepsy (Lancet Neurol 2021) | The developmental frame the programme works in. |
The Kobow Lab
Universitätsklinikum Erlangen
Dept. of Neuropathology
Schwabachanlage 6
91054 Erlangen, Germany
info[at]kobowlab.org
+49 (09131) 85-34782
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The Kobow Lab 