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Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome.
Buijsse N, Jansen FE, Ockeloen CW, van Kempen MJA, Zeidler S, Willemsen MH, Scarano E, Monticone S, Zonneveld-Huijssoon E, Low KJ, Bayat A, Sisodiya SM, Samanta D, Lesca G, de Jong D, Giltay JC, Verbeek NE, Kleefstra T, Brilstra EH, Vlaskamp DRM. Buijsse N, et al. Among authors: vlaskamp drm. Epilepsia Open. 2023 Dec;8(4):1300-1313. doi: 10.1002/epi4.12799. Epub 2023 Aug 18. Epilepsia Open. 2023. PMID: 37501353 Free PMC article.
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.
Stamberger H, Hammer TB, Gardella E, Vlaskamp DRM, Bertelsen B, Mandelstam S, de Lange I, Zhang J, Myers CT, Fenger C, Afawi Z, Almanza Fuerte EP, Andrade DM, Balcik Y, Ben Zeev B, Bennett MF, Berkovic SF, Isidor B, Bouman A, Brilstra E, Busk ØL, Cairns A, Caumes R, Chatron N, Dale RC, de Geus C, Edery P, Gill D, Granild-Jensen JB, Gunderson L, Gunning B, Heimer G, Helle JR, Hildebrand MS, Hollingsworth G, Kharytonov V, Klee EW, Koeleman BPC, Koolen DA, Korff C, Küry S, Lesca G, Lev D, Leventer RJ, Mackay MT, Macke EL, McEntagart M, Mohammad SS, Monin P, Montomoli M, Morava E, Moutton S, Muir AM, Parrini E, Procopis P, Ranza E, Reed L, Reif PS, Rosenow F, Rossi M, Sadleir LG, Sadoway T, Schelhaas HJ, Schneider AL, Shah K, Shalev R, Sisodiya SM, Smol T, Stumpel CTRM, Stuurman K, Symonds JD, Mau-Them FT, Verbeek N, Verhoeven JS, Wallace G, Yosovich K, Zarate YA, Zerem A, Zuberi SM, Guerrini R, Mefford HC, Patel C, Zhang YH, Møller RS, Scheffer IE. Stamberger H, et al. Among authors: vlaskamp drm. Genet Med. 2021 Feb;23(2):363-373. doi: 10.1038/s41436-020-00988-9. Epub 2020 Nov 4. Genet Med. 2021. PMID: 33144681 Free article.
Copy number variation in a hospital-based cohort of children with epilepsy.
Vlaskamp DRM, Callenbach PMC, Rump P, Giannini LAA, Dijkhuizen T, Brouwer OF, van Ravenswaaij-Arts CMA. Vlaskamp DRM, et al. Epilepsia Open. 2017 May 8;2(2):244-254. doi: 10.1002/epi4.12057. eCollection 2017 Jun. Epilepsia Open. 2017. PMID: 29588953 Free PMC article.
PRRT2-related phenotypes in patients with a 16p11.2 deletion.
Vlaskamp DRM, Callenbach PMC, Rump P, Giannini LAA, Brilstra EH, Dijkhuizen T, Vos YJ, van der Kevie-Kersemaekers AF, Knijnenburg J, de Leeuw N, van Minkelen R, Ruivenkamp CAL, Stegmann APA, Brouwer OF, van Ravenswaaij-Arts CMA. Vlaskamp DRM, et al. Eur J Med Genet. 2019 Apr;62(4):265-269. doi: 10.1016/j.ejmg.2018.08.002. Epub 2018 Aug 17. Eur J Med Genet. 2019. PMID: 30125676 Free article.
GRIN2A-related disorders: genotype and functional consequence predict phenotype.
Strehlow V, Heyne HO, Vlaskamp DRM, Marwick KFM, Rudolf G, de Bellescize J, Biskup S, Brilstra EH, Brouwer OF, Callenbach PMC, Hentschel J, Hirsch E, Kind PC, Mignot C, Platzer K, Rump P, Skehel PA, Wyllie DJA, Hardingham GE, van Ravenswaaij-Arts CMA, Lesca G, Lemke JR; GRIN2A study group. Strehlow V, et al. Among authors: vlaskamp drm. Brain. 2019 Jan 1;142(1):80-92. doi: 10.1093/brain/awy304. Brain. 2019. PMID: 30544257 Free PMC article.
Functional correlates of clinical phenotype and severity in recurrent SCN2A variants.
Berecki G, Howell KB, Heighway J, Olivier N, Rodda J, Overmars I, Vlaskamp DRM, Ware TL, Ardern-Holmes S, Lesca G, Alber M, Veggiotti P, Scheffer IE, Berkovic SF, Wolff M, Petrou S. Berecki G, et al. Among authors: vlaskamp drm. Commun Biol. 2022 May 30;5(1):515. doi: 10.1038/s42003-022-03454-1. Commun Biol. 2022. PMID: 35637276 Free PMC article.
SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.
Vlaskamp DRM, Shaw BJ, Burgess R, Mei D, Montomoli M, Xie H, Myers CT, Bennett MF, XiangWei W, Williams D, Maas SM, Brooks AS, Mancini GMS, van de Laar IMBH, van Hagen JM, Ware TL, Webster RI, Malone S, Berkovic SF, Kalnins RM, Sicca F, Korenke GC, van Ravenswaaij-Arts CMA, Hildebrand MS, Mefford HC, Jiang Y, Guerrini R, Scheffer IE. Vlaskamp DRM, et al. Neurology. 2019 Jan 8;92(2):e96-e107. doi: 10.1212/WNL.0000000000006729. Epub 2018 Dec 12. Neurology. 2019. PMID: 30541864 Free PMC article.
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