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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.
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
The clinical utility of an SCN1A genetic diagnosis in infantile-onset epilepsy.
Brunklaus A, Dorris L, Ellis R, Reavey E, Lee E, Forbes G, Appleton R, Cross JH, Ferrie C, Hughes I, Jollands A, King MD, Livingston J, Lynch B, Philip S, Scheffer IE, Williams R, Zuberi SM. Brunklaus A, et al. Dev Med Child Neurol. 2013 Feb;55(2):154-161. doi: 10.1111/dmcn.12030. Epub 2012 Nov 20. Dev Med Child Neurol. 2013. PMID: 23163885 Free article.
71 results