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Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach.
Boerma RS, Braun KP, van den Broek MP, van Berkestijn FM, Swinkels ME, Hagebeuk EO, Lindhout D, van Kempen M, Boon M, Nicolai J, de Kovel CG, Brilstra EH, Koeleman BP. Boerma RS, et al. Among authors: nicolai j. Neurotherapeutics. 2016 Jan;13(1):192-7. doi: 10.1007/s13311-015-0372-8. Neurotherapeutics. 2016. PMID: 26252990 Free PMC article.
Erratum to: Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach.
Boerma RS, Braun KP, van den Broek MP, van Berkestijn FM, Swinkels ME, Hagebeuk EO, Lindhout D, van Kempen M, Boon M, Nicolai J, de Kovel CG, Brilstra EH, Koeleman BP. Boerma RS, et al. Among authors: nicolai j. Neurotherapeutics. 2016 Jan;13(1):238. doi: 10.1007/s13311-015-0386-2. Neurotherapeutics. 2016. PMID: 26297079 Free PMC article. No abstract available.
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. Among authors: nicolai j. Neurology. 2015 Aug 18;85(7):596-603. doi: 10.1212/WNL.0000000000001855. Epub 2015 Jul 22. Neurology. 2015. PMID: 26203087
Influence of contraindicated medication use on cognitive outcome in Dravet syndrome and age at first afebrile seizure as a clinical predictor in SCN1A-related seizure phenotypes.
de Lange IM, Gunning B, Sonsma ACM, van Gemert L, van Kempen M, Verbeek NE, Nicolai J, Knoers NVAM, Koeleman BPC, Brilstra EH. de Lange IM, et al. Among authors: nicolai j. Epilepsia. 2018 Jun;59(6):1154-1165. doi: 10.1111/epi.14191. Epub 2018 May 11. Epilepsia. 2018. PMID: 29750338
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. Among authors: nicolai j. 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.
De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.
Blanchard MG, Willemsen MH, Walker JB, Dib-Hajj SD, Waxman SG, Jongmans MC, Kleefstra T, van de Warrenburg BP, Praamstra P, Nicolai J, Yntema HG, Bindels RJ, Meisler MH, Kamsteeg EJ. Blanchard MG, et al. Among authors: nicolai j. J Med Genet. 2015 May;52(5):330-7. doi: 10.1136/jmedgenet-2014-102813. Epub 2015 Feb 27. J Med Genet. 2015. PMID: 25725044 Free PMC article.
Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability.
Snoeijen-Schouwenaars FM, van Ool JS, Verhoeven JS, van Mierlo P, Braakman HMH, Smeets EE, Nicolai J, Schoots J, Teunissen MWA, Rouhl RPW, Tan IY, Yntema HG, Brunner HG, Pfundt R, Stegmann AP, Kamsteeg EJ, Schelhaas HJ, Willemsen MH. Snoeijen-Schouwenaars FM, et al. Among authors: nicolai j. Epilepsia. 2019 Jan;60(1):155-164. doi: 10.1111/epi.14618. Epub 2018 Dec 7. Epilepsia. 2019. PMID: 30525188
313 results