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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: marco ss. 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.
Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1: real-world evidence from 6 infusion centres in the United Kingdom.
Gowda V, Atherton M, Murugan A, Servais L, Sheehan J, Standing E, Manzur A, Scoto M, Baranello G, Munot P, McCullagh G, Willis T, Tirupathi S, Horrocks I, Dhawan A, Eyre M, Vanegas M, Fernandez-Garcia MA, Wolfe A, Pinches L, Illingworth M, Main M, Abbott L, Smith H, Milton E, D'Urso S, Vijayakumar K, Marco SS, Warner S, Reading E, Douglas I, Muntoni F, Ong M, Majumdar A, Hughes I, Jungbluth H, Wraige E. Gowda V, et al. Among authors: marco ss. Lancet Reg Health Eur. 2023 Dec 11;37:100817. doi: 10.1016/j.lanepe.2023.100817. eCollection 2024 Feb. Lancet Reg Health Eur. 2023. PMID: 38169987 Free PMC article.