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The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
Brunklaus A, Brünger T, Feng T, Fons C, Lehikoinen A, Panagiotakaki E, Vintan MA, Symonds J, Andrew J, Arzimanoglou A, Delima S, Gallois J, Hanrahan D, Lesca G, MacLeod S, Marjanovic D, McTague A, Nuñez-Enamorado N, Perez-Palma E, Scott Perry M, Pysden K, Russ-Hall SJ, Scheffer IE, Sully K, Syrbe S, Vaher U, Velayutham M, Vogt J, Weiss S, Wirrell E, Zuberi SM, Lal D, Møller RS, Mantegazza M, Cestèle S. Brunklaus A, et al. Among authors: vintan ma. Brain. 2022 Nov 21;145(11):3816-3831. doi: 10.1093/brain/awac210. Brain. 2022. PMID: 35696452 Free PMC article.
Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries.
Selvatici R, Rossi R, Fortunato F, Trabanelli C, Sifi Y, Margutti A, Neri M, Gualandi F, Szabò L, Fekete B, Angelova L, Litvinenko I, Ivanov I, Vildan Y, Iuhas OA, Vintan M, Burloiu C, Lacramioara B, Visa G, Epure D, Rusu C, Vasile D, Sandu M, Vlodavets D, Mager M, Kyriakides T, Delin S, Lehman I, Fureš JS, Bojinova V, Militaru M, Guergueltcheva V, Burnyte B, Molnar MJ, Butoianu N, Bensemmane SD, Makri-Mokrane S, Herczegfalvi A, Panzaru M, Emandi AC, Lusakowska A, Potulska-Chromik A, Kostera-Pruszczyk A, Shatillo A, Khelladi DB, Dendane O, Fang M, Lu Z, Ferlini A. Selvatici R, et al. Neurol Genet. 2020 Dec 24;7(1):e536. doi: 10.1212/NXG.0000000000000536. eCollection 2021 Feb. Neurol Genet. 2020. PMID: 33376799 Free PMC article.
A Multinational Survey on Actual Diagnostics and Treatment of Subacute Sclerosing Panencephalitis.
Häusler M, Aksoy A, Alber M, Altunbasak S, Angay A, Arsene OT, Craiu D, Hartmann H, Hiz-Kurul S, Ichiyama T, Iliescu C, Jocic-Jakubi B, Korinthenberg R, Köse G, Lukban MB, Ozkan M, Patcheva I, Teichler J, Vintan M, Yaramis A, Yarar C, Yis U, Yuksel D, Anlar B. Häusler M, et al. Neuropediatrics. 2015 Dec;46(6):377-84. doi: 10.1055/s-0035-1564618. Epub 2015 Oct 19. Neuropediatrics. 2015. PMID: 26479761
Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study.
Nabbout R, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D Amato L, d'Augères GB, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen A, Kingswood JC; TOSCA Consortium and TOSCA Investigators. Nabbout R, et al. Epilepsia Open. 2018 Dec 21;4(1):73-84. doi: 10.1002/epi4.12286. eCollection 2019 Mar. Epilepsia Open. 2018. PMID: 30868117 Free PMC article.
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