Analysis of 1386 epileptogenic brain lesions reveals association with DYRK1A and EGFR

Boßelmann, Christian M.; Leu, Costin; Brünger, Tobias; Hoffmann, Lucas; Baldassari, Sara; Chipaux, Mathilde; Coras, Roland; Kobow, Katja; Hamer, Hajo; Delev, Daniel; Rössler, Karl; Bien, Christian; Kalbhenn, Thilo; Pieper, Tom; Hartlieb, Till; Becker, Kerstin; Ferguson, Lisa; Busch, Robyn M.; Baulac, Stéphanie; Nürnberg, Peter; Najm, Imad; Blümcke, Ingmar; Lal, Dennis

Analysis of 1386 epileptogenic brain lesions reveals association with DYRK1A and EGFR

Boßelmann CM, Leu C, Brünger T, Hoffmann L, Baldassari S, Chipaux M, Coras R, Kobow K, Hamer H, Delev D, Rössler K, et al. (2024)
Nature Communications 15(1): 10429.

Zeitschriftenaufsatz | Veröffentlicht | Englisch

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DOI

https://doi.org/10.1038/s41467-024-54911-w

Autor*in

Boßelmann, Christian M.; Leu, Costin; Brünger, Tobias; Hoffmann, Lucas; Baldassari, Sara; Chipaux, Mathilde; Coras, Roland; Kobow, Katja; Hamer, Hajo; Delev, Daniel; Rössler, Karl; Bien, Christian^UniBi
Alle

Einrichtung

Medizinische Fakultät OWL > AG 104 Epileptologie

Abstract / Bemerkung

Lesional focal epilepsy (LFE) is a common and severe seizure disorder caused by epileptogenic lesions, including malformations of cortical development (MCD) and low-grade epilepsy-associated tumors (LEAT). Understanding the genetic etiology of these lesions can inform medical and surgical treatment. We conducted a somatic variant enrichment mega-analysis in brain tissue from 1386 individuals who underwent epilepsy surgery, including 599 previously unpublished individuals with ultra-deep ( > 1600x) targeted panel sequencing. Here we confirm four known associations (BRAF, SLC35A2, MTOR, PTPN11), support eight associations without prior statistical support (FGFR1, PIK3CA, AKT3, NF1, PTEN, RHEB, KRAS, NRAS), and identify novel associations for two genes, DYRK1A and EGFR. Both novel genes show specific histopathological phenotypes, interact with LFE genes and pathways, and may represent promising candidates as biomarkers and potentially druggable targets.

Erscheinungsjahr

2024

Zeitschriftentitel

Nature Communications

Band

Ausgabe

Art.-Nr.

10429

eISSN

2041-1723

Page URI

https://pub.uni-bielefeld.de/record/2999633

Zitieren

Boßelmann CM, Leu C, Brünger T, et al. Analysis of 1386 epileptogenic brain lesions reveals association with DYRK1A and EGFR. Nature Communications . 2024;15(1): 10429.

Boßelmann, C. M., Leu, C., Brünger, T., Hoffmann, L., Baldassari, S., Chipaux, M., Coras, R., et al. (2024). Analysis of 1386 epileptogenic brain lesions reveals association with DYRK1A and EGFR. Nature Communications , 15(1), 10429. https://doi.org/10.1038/s41467-024-54911-w

Boßelmann, Christian M., Leu, Costin, Brünger, Tobias, Hoffmann, Lucas, Baldassari, Sara, Chipaux, Mathilde, Coras, Roland, et al. 2024. “Analysis of 1386 epileptogenic brain lesions reveals association with DYRK1A and EGFR”. Nature Communications 15 (1): 10429.

Boßelmann, C. M., Leu, C., Brünger, T., Hoffmann, L., Baldassari, S., Chipaux, M., Coras, R., Kobow, K., Hamer, H., Delev, D., et al. (2024). Analysis of 1386 epileptogenic brain lesions reveals association with DYRK1A and EGFR. Nature Communications 15:10429.

Boßelmann, C.M., et al., 2024. Analysis of 1386 epileptogenic brain lesions reveals association with DYRK1A and EGFR. Nature Communications , 15(1): 10429.

C.M. Boßelmann, et al., “Analysis of 1386 epileptogenic brain lesions reveals association with DYRK1A and EGFR”, Nature Communications , vol. 15, 2024, : 10429.

Boßelmann, C.M., Leu, C., Brünger, T., Hoffmann, L., Baldassari, S., Chipaux, M., Coras, R., Kobow, K., Hamer, H., Delev, D., Rössler, K., Bien, C., Kalbhenn, T., Pieper, T., Hartlieb, T., Becker, K., Ferguson, L., Busch, R.M., Baulac, S., Nürnberg, P., Najm, I., Blümcke, I., Lal, D.: Analysis of 1386 epileptogenic brain lesions reveals association with DYRK1A and EGFR. Nature Communications . 15, : 10429 (2024).

Boßelmann, Christian M., Leu, Costin, Brünger, Tobias, Hoffmann, Lucas, Baldassari, Sara, Chipaux, Mathilde, Coras, Roland, Kobow, Katja, Hamer, Hajo, Delev, Daniel, Rössler, Karl, Bien, Christian, Kalbhenn, Thilo, Pieper, Tom, Hartlieb, Till, Becker, Kerstin, Ferguson, Lisa, Busch, Robyn M., Baulac, Stéphanie, Nürnberg, Peter, Najm, Imad, Blümcke, Ingmar, and Lal, Dennis. “Analysis of 1386 epileptogenic brain lesions reveals association with DYRK1A and EGFR”. Nature Communications 15.1 (2024): 10429.

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