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Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS).
Viswanathan S, Oliver KL, Regan BM, Schneider AL, Myers CT, Mehaffey MG, LaCroix AJ, Antony J, Webster R, Cardamone M, Subramanian GM, Chiu ATG, Roza E, Teleanu RI, Malone S, Leventer RJ, Gill D, Berkovic SF, Hildebrand MS, Goad BS, Howell KB, Symonds JD, Brunklaus A, Sadleir LG, Zuberi SM, Mefford HC, Scheffer IE. Viswanathan S, et al. Among authors: brunklaus a. Ann Neurol. 2024 Nov;96(5):932-943. doi: 10.1002/ana.27041. Epub 2024 Aug 2. Ann Neurol. 2024. PMID: 39096015
Brainstem depolarization-induced lethal apnea associated with gain-of-function SCN1AL263V is prevented by sodium channel blockade.
Jansen NA, Cestèle S, Marco SS, Schenke M, Stewart K, Patel J, Tolner EA, Brunklaus A, Mantegazza M, van den Maagdenberg AMJM. Jansen NA, et al. Among authors: brunklaus a. Proc Natl Acad Sci U S A. 2024 Apr 2;121(14):e2309000121. doi: 10.1073/pnas.2309000121. Epub 2024 Mar 28. Proc Natl Acad Sci U S A. 2024. PMID: 38547067 Free PMC article.
Predicting functional effects of missense variants in voltage-gated sodium and calcium channels.
Heyne HO, Baez-Nieto D, Iqbal S, Palmer DS, Brunklaus A, May P; Epi25 Collaborative; Johannesen KM, Lauxmann S, Lemke JR, Møller RS, Pérez-Palma E, Scholl UI, Syrbe S, Lerche H, Lal D, Campbell AJ, Wang HR, Pan J, Daly MJ. Heyne HO, et al. Among authors: brunklaus a. Sci Transl Med. 2020 Aug 12;12(556):eaay6848. doi: 10.1126/scitranslmed.aay6848. Sci Transl Med. 2020. PMID: 32801145
Genotype-phenotype associations in SCN1A-related epilepsies.
Zuberi SM, Brunklaus A, Birch R, Reavey E, Duncan J, Forbes GH. Zuberi SM, et al. Among authors: brunklaus a. Neurology. 2011 Feb 15;76(7):594-600. doi: 10.1212/WNL.0b013e31820c309b. Epub 2011 Jan 19. Neurology. 2011. PMID: 21248271
70 results