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The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria.
Helbig I, Riggs ER, Barry CA, Klein KM, Dyment D, Thaxton C, Sadikovic B, Sands TT, Wagnon JL, Liaquat K, Cilio MR, Mirzaa G, Park K, Axeen E, Butler E, Bardakjian TM, Striano P, Poduri A, Siegert RK, Grant AR, Helbig KL, Mefford HC. Helbig I, et al. Among authors: wagnon jl. Hum Mutat. 2018 Nov;39(11):1476-1484. doi: 10.1002/humu.23632. Hum Mutat. 2018. PMID: 30311377 Free PMC article.
SCN8A encephalopathy: Research progress and prospects.
Meisler MH, Helman G, Hammer MF, Fureman BE, Gaillard WD, Goldin AL, Hirose S, Ishii A, Kroner BL, Lossin C, Mefford HC, Parent JM, Patel M, Schreiber J, Stewart R, Whittemore V, Wilcox K, Wagnon JL, Pearl PL, Vanderver A, Scheffer IE. Meisler MH, et al. Among authors: wagnon jl. Epilepsia. 2016 Jul;57(7):1027-35. doi: 10.1111/epi.13422. Epub 2016 Jun 8. Epilepsia. 2016. PMID: 27270488 Free PMC article.
Biallelic inherited SCN8A variants, a rare cause of SCN8A-related developmental and epileptic encephalopathy.
Wengert ER, Tronhjem CE, Wagnon JL, Johannesen KM, Petit H, Krey I, Saga AU, Panchal PS, Strohm SM, Lange J, Kamphausen SB, Rubboli G, Lemke JR, Gardella E, Patel MK, Meisler MH, Møller RS. Wengert ER, et al. Among authors: wagnon jl. Epilepsia. 2019 Nov;60(11):2277-2285. doi: 10.1111/epi.16371. Epub 2019 Oct 17. Epilepsia. 2019. PMID: 31625145 Free PMC article.
Gabra2 is a genetic modifier of Scn8a encephalopathy in the mouse.
Yu W, Hill SF, Xenakis JG, Pardo-Manuel de Villena F, Wagnon JL, Meisler MH. Yu W, et al. Among authors: wagnon jl. Epilepsia. 2020 Dec;61(12):2847-2856. doi: 10.1111/epi.16741. Epub 2020 Nov 2. Epilepsia. 2020. PMID: 33140451 Free PMC article.
Prominent role of forebrain excitatory neurons in SCN8A encephalopathy.
Bunton-Stasyshyn RKA, Wagnon JL, Wengert ER, Barker BS, Faulkner A, Wagley PK, Bhatia K, Jones JM, Maniaci MR, Parent JM, Goodkin HP, Patel MK, Meisler MH. Bunton-Stasyshyn RKA, et al. Among authors: wagnon jl. Brain. 2019 Feb 1;142(2):362-375. doi: 10.1093/brain/awy324. Brain. 2019. PMID: 30601941 Free PMC article.
31 results