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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: rouhl rpw. Hum Mol Genet. 2023 Jul 4;32(14):2373-2385. doi: 10.1093/hmg/ddad081. Hum Mol Genet. 2023. PMID: 37195288 Free PMC article.
Endothelial activation in lacunar stroke subtypes.
Knottnerus IL, Govers-Riemslag JW, Hamulyak K, Rouhl RP, Staals J, Spronk HM, van Oerle R, van Raak EP, Lodder J, ten Cate H, van Oostenbrugge RJ. Knottnerus IL, et al. Stroke. 2010 Aug;41(8):1617-22. doi: 10.1161/STROKEAHA.109.576223. Epub 2010 Jul 1. Stroke. 2010. PMID: 20595673
82 results