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SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes.
van Hugte EJH, Lewerissa EI, Wu KM, Scheefhals N, Parodi G, van Voorst TW, Puvogel S, Kogo N, Keller JM, Frega M, Schubert D, Schelhaas HJ, Verhoeven J, Majoie M, van Bokhoven H, Nadif Kasri N. van Hugte EJH, et al. Among authors: lewerissa ei. Brain. 2023 Dec 1;146(12):5153-5167. doi: 10.1093/brain/awad245. Brain. 2023. PMID: 37467479 Free PMC article.
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.
Teunissen MWA, Lewerissa E, van Hugte EJH, Wang S, Ockeloen CW, Koolen DA, Pfundt R, Marcelis CLM, Brilstra E, Howe JL, Scherer SW, Le Guillou X, Bilan F, Primiano M, Roohi J, Piton A, de Saint Martin A, Baer S, Seiffert S, Platzer K, Jamra RA, Syrbe S, Doering JH, Lakhani S, Nangia S, Gilissen C, Vermeulen RJ, Rouhl RPW, Brunner HG, Willemsen MH, Nadif Kasri N. Teunissen MWA, et al. Among authors: lewerissa e. Hum Mol Genet. 2023 Jul 4;32(14):2373-2385. doi: 10.1093/hmg/ddad081. Hum Mol Genet. 2023. PMID: 37195288 Free PMC article.
Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders.
Linda K, Lewerissa EI, Verboven AHA, Gabriele M, Frega M, Klein Gunnewiek TM, Devilee L, Ulferts E, Hommersom M, Oudakker A, Schoenmaker C, van Bokhoven H, Schubert D, Testa G, Koolen DA, de Vries BBA, Nadif Kasri N. Linda K, et al. Among authors: lewerissa ei. Autophagy. 2022 Feb;18(2):423-442. doi: 10.1080/15548627.2021.1936777. Epub 2021 Jul 21. Autophagy. 2022. PMID: 34286667 Free PMC article.
Neuronal network activity and connectivity are impaired in a conditional knockout mouse model with PCDH19 mosaic expression.
Giansante G, Mazzoleni S, Zippo AG, Ponzoni L, Ghilardi A, Maiellano G, Lewerissa E, van Hugte E, Nadif Kasri N, Francolini M, Sala M, Murru L, Bassani S, Passafaro M. Giansante G, et al. Among authors: lewerissa e. Mol Psychiatry. 2023 Mar 30. doi: 10.1038/s41380-023-02022-1. Online ahead of print. Mol Psychiatry. 2023. PMID: 36997609 Free article.
The epilepsy-associated protein PCDH19 undergoes NMDA receptor-dependent proteolytic cleavage and regulates the expression of immediate-early genes.
Gerosa L, Mazzoleni S, Rusconi F, Longaretti A, Lewerissa E, Pelucchi S, Murru L, Giannelli SG, Broccoli V, Marcello E, Kasri NN, Battaglioli E, Passafaro M, Bassani S. Gerosa L, et al. Among authors: lewerissa e. Cell Rep. 2022 May 24;39(8):110857. doi: 10.1016/j.celrep.2022.110857. Cell Rep. 2022. PMID: 35613587 Free PMC article.
Loss-of-function variants in the schizophrenia risk gene SETD1A alter neuronal network activity in human neurons through the cAMP/PKA pathway.
Wang S, Rhijn JV, Akkouh I, Kogo N, Maas N, Bleeck A, Ortiz IS, Lewerissa E, Wu KM, Schoenmaker C, Djurovic S, van Bokhoven H, Kleefstra T, Nadif Kasri N, Schubert D. Wang S, et al. Among authors: lewerissa e. Cell Rep. 2022 May 3;39(5):110790. doi: 10.1016/j.celrep.2022.110790. Cell Rep. 2022. PMID: 35508131 Free PMC article.