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Molecular and cellular context influences SCN8A variant function.
Vanoye CG, Abramova TV, Dekeyser JM, Ghabra NF, Oudin MJ, Burge CB, Helbig I, Thompson CH, George AL Jr. Vanoye CG, et al. Among authors: thompson ch. JCI Insight. 2024 May 21:e177530. doi: 10.1172/jci.insight.177530. Online ahead of print. JCI Insight. 2024. PMID: 38771640 Free article.
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene.
Panagiotakaki E, Tiziano FD, Mikati MA, Vijfhuizen LS, Nicole S, Lesca G, Abiusi E, Novelli A, Di Pietro L; I.B.AHC Consortium; IAHCRC Consortium; Harder AVE, Walley NM, De Grandis E, Poulat AL, Portes VD, Lépine A, Nassogne MC, Arzimanoglou A, Vavassori R, Koenderink J, Thompson CH, George AL Jr, Gurrieri F, van den Maagdenberg AMJM, Heinzen EL. Panagiotakaki E, et al. Among authors: thompson ch. Eur J Hum Genet. 2024 Feb;32(2):224-231. doi: 10.1038/s41431-023-01489-4. Epub 2023 Dec 14. Eur J Hum Genet. 2024. PMID: 38097767
Molecular and Cellular Context Influences SCN8A Variant Function.
Vanoye CG, Abramova TV, DeKeyser JM, Ghabra NF, Oudin MJ, Burge CB, Helbig I, Thompson CH, George AL. Vanoye CG, et al. Among authors: thompson ch. bioRxiv [Preprint]. 2023 Nov 13:2023.11.11.566702. doi: 10.1101/2023.11.11.566702. bioRxiv. 2023. PMID: 38014225 Free PMC article. Preprint.
323 results