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Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Õiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Møller RS. Wolff M, et al. Among authors: knoers n. Brain. 2017 May 1;140(5):1316-1336. doi: 10.1093/brain/awx054. Brain. 2017. PMID: 28379373
Outcomes and comorbidities of SCN1A-related seizure disorders.
de Lange IM, Gunning B, Sonsma ACM, van Gemert L, van Kempen M, Verbeek NE, Sinoo C, Nicolai J, Knoers NVAM, Koeleman BPC, Brilstra EH. de Lange IM, et al. Epilepsy Behav. 2019 Jan;90:252-259. doi: 10.1016/j.yebeh.2018.09.041. Epub 2018 Dec 5. Epilepsy Behav. 2019. PMID: 30527252 Free article.
Effect of vaccinations on seizure risk and disease course in Dravet syndrome.
Verbeek NE, van der Maas NA, Sonsma AC, Ippel E, Vermeer-de Bondt PE, Hagebeuk E, Jansen FE, Geesink HH, Braun KP, de Louw A, Augustijn PB, Neuteboom RF, Schieving JH, Stroink H, Vermeulen RJ, Nicolai J, Brouwer OF, van Kempen M, de Kovel CG, Kemmeren JM, Koeleman BP, Knoers NV, Lindhout D, Gunning WB, Brilstra EH. Verbeek NE, et al. Neurology. 2015 Aug 18;85(7):596-603. doi: 10.1212/WNL.0000000000001855. Epub 2015 Jul 22. Neurology. 2015. PMID: 26203087
Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes.
de Lange IM, Koudijs MJ, van 't Slot R, Gunning B, Sonsma ACM, van Gemert LJJM, Mulder F, Carbo EC, van Kempen MJA, Verbeek NE, Nijman IJ, Ernst RF, Savelberg SMC, Knoers NVAM, Brilstra EH, Koeleman BPC. de Lange IM, et al. Epilepsia. 2018 Mar;59(3):690-703. doi: 10.1111/epi.14021. Epub 2018 Feb 20. Epilepsia. 2018. PMID: 29460957
Modifier genes in SCN1A-related epilepsy syndromes.
de Lange IM, Mulder F, van 't Slot R, Sonsma ACM, van Kempen MJA, Nijman IJ, Ernst RF, Knoers NVAM, Brilstra EH, Koeleman BPC. de Lange IM, et al. Mol Genet Genomic Med. 2020 Apr;8(4):e1103. doi: 10.1002/mgg3.1103. Epub 2020 Feb 7. Mol Genet Genomic Med. 2020. PMID: 32032478 Free PMC article.
Influence of common SCN1A promoter variants on the severity of SCN1A-related phenotypes.
de Lange IM, Weuring W, van 't Slot R, Gunning B, Sonsma ACM, McCormack M, de Kovel C, van Gemert LJJM, Mulder F, van Kempen MJA, Knoers NVAM, Brilstra EH, Koeleman BPC. de Lange IM, et al. Mol Genet Genomic Med. 2019 Jul;7(7):e00727. doi: 10.1002/mgg3.727. Epub 2019 May 29. Mol Genet Genomic Med. 2019. PMID: 31144463 Free PMC article.
Photosensitivity in Dravet syndrome is under-recognized and related to prognosis.
Verbeek N, Kasteleijn-Nolst Trenité D, Wassenaar M, van Campen J, Sonsma A, Gunning WB, de Weerd A, Knoers N, Spetgens W, Gutter T, Leijten F, Brilstra E. Verbeek N, et al. Among authors: knoers n. Clin Neurophysiol. 2017 Feb;128(2):323-330. doi: 10.1016/j.clinph.2016.11.021. Epub 2016 Dec 6. Clin Neurophysiol. 2017. PMID: 28042998
291 results