Recombination Between the Sodium Channel SCN8A and the Allgrove Syndrome Gene in a Puerto Rican Kindred.

Autor: Sprunger, L. K.¹, Meisler, M. H.¹ meislerm@umich.edu, Stratakis, C. A.²

Publikováno v: International Journal on Disability & Human Development (De Gruyter). Jul2000, Vol. 1 Issue 3, p165-169. 5p.

The contribution of Na V 1.6 to the efficacy of voltage-gated sodium channel inhibitors in wild type and Na V 1.6 gain-of-function (GOF) mouse seizure control.

Autor: Johnson JP Jr; Department of In Vitro Biology, Xenon Pharmaceuticals Inc, Burnaby, British Columbia, Canada., Focken T; Department of Chemistry, Xenon Pharmaceuticals Inc, Burnaby, British Columbia, Canada., Karimi Tari P; Department of In Vivo Biology, Xenon Pharmaceuticals Inc, Burnaby, British Columbia, Canada., Dube C; Department of In Vivo Biology, Xenon Pharmaceuticals Inc, Burnaby, British Columbia, Canada., Goodchild SJ; Department of In Vitro Biology, Xenon Pharmaceuticals Inc, Burnaby, British Columbia, Canada., Andrez JC; Department of Chemistry, Xenon Pharmaceuticals Inc, Burnaby, British Columbia, Canada., Bankar G; Department of In Vivo Biology, Xenon Pharmaceuticals Inc, Burnaby, British Columbia, Canada., Burford K; Department of Chemistry, Xenon Pharmaceuticals Inc, Burnaby, British Columbia, Canada., Chang E; Department of In Vitro Biology, Xenon Pharmaceuticals Inc, Burnaby, British Columbia, Canada., Chowdhury S; Department of Chemistry, Xenon Pharmaceuticals Inc, Burnaby, British Columbia, Canada., Christabel J; Department of In Vitro Biology, Xenon Pharmaceuticals Inc, Burnaby, British Columbia, Canada., Dean R; Department of In Vitro Biology, Xenon Pharmaceuticals Inc, Burnaby, British Columbia, Canada., de Boer G; Department of Compound Properties, Xenon Pharmaceuticals Inc, Burnaby, British Columbia, Canada., Dehnhardt C; Department of Chemistry, Xenon Pharmaceuticals Inc, Burnaby, British Columbia, Canada., Gong W; Department of Chemistry, Xenon Pharmaceuticals Inc, Burnaby, British Columbia, Canada., Grimwood M; Department of Chemistry, Xenon Pharmaceuticals Inc, Burnaby, British Columbia, Canada., Hussainkhel A; Department of In Vitro Biology, Xenon Pharmaceuticals Inc, Burnaby, British Columbia, Canada., Jia Q; Department of Chemistry, Xenon Pharmaceuticals Inc, Burnaby, British Columbia, Canada., Khakh K; Department of In Vitro Biology, Xenon Pharmaceuticals Inc, Burnaby, British Columbia, Canada., Lee S; Department of Compound Properties, Xenon Pharmaceuticals Inc, Burnaby, British Columbia, Canada., Li J; Department of In Vitro Biology, Xenon Pharmaceuticals Inc, Burnaby, British Columbia, Canada., Lin S; Department of In Vitro Biology, Xenon Pharmaceuticals Inc, Burnaby, British Columbia, Canada., Lindgren A; Department of Compound Properties, Xenon Pharmaceuticals Inc, Burnaby, British Columbia, Canada., Lofstrand V; Department of Chemistry, Xenon Pharmaceuticals Inc, Burnaby, British Columbia, Canada., Mezeyova J; Department of In Vitro Biology, Xenon Pharmaceuticals Inc, Burnaby, British Columbia, Canada., Nelkenbrecher K; Department of In Vivo Biology, Xenon Pharmaceuticals Inc, Burnaby, British Columbia, Canada., Shuart NG; Department of In Vitro Biology, Xenon Pharmaceuticals Inc, Burnaby, British Columbia, Canada., Sojo L; Department of Compound Properties, Xenon Pharmaceuticals Inc, Burnaby, British Columbia, Canada., Sun S; Department of Chemistry, Xenon Pharmaceuticals Inc, Burnaby, British Columbia, Canada., Waldbrook M; Department of In Vivo Biology, Xenon Pharmaceuticals Inc, Burnaby, British Columbia, Canada., Wesolowski S; Department of Chemistry, Xenon Pharmaceuticals Inc, Burnaby, British Columbia, Canada., Wilson M; Department of Chemistry, Xenon Pharmaceuticals Inc, Burnaby, British Columbia, Canada., Xie Z; Department of In Vitro Biology, Xenon Pharmaceuticals Inc, Burnaby, British Columbia, Canada., Zenova A; Department of Chemistry, Xenon Pharmaceuticals Inc, Burnaby, British Columbia, Canada., Zhang W; Department of Chemistry, Xenon Pharmaceuticals Inc, Burnaby, British Columbia, Canada., Scott FL; Neurocrine Biosciences, San Diego, California, USA., Cutts AJ; Scientific Affairs, Xenon Pharmaceuticals, Inc, Burnaby, British Columbia, Canada., Sherrington RP; Executive Team, Xenon Pharmaceuticals Inc, Burnaby, British Columbia, Canada., Winquist R; Executive Team, Xenon Pharmaceuticals Inc, Burnaby, British Columbia, Canada., Cohen CJ; Executive Team, Xenon Pharmaceuticals Inc, Burnaby, British Columbia, Canada., Empfield JR; Executive Team, Xenon Pharmaceuticals Inc, Burnaby, British Columbia, Canada.

Publikováno v: British journal of pharmacology [Br J Pharmacol] 2024 Oct; Vol. 181 (20), pp. 3993-4011. Date of Electronic Publication: 2024 Jun 24.

A novel GEFS plus mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction

Autor: Spamparrato, J., Kearney, J. A., Haan, G., Mcewen, D. P., Escayg, A., Macdonald, B. T., Levin, S. I., Aradi, I., Soltesz, I., Paolo Benna, Montalenti, E., Isom, L. L., Goldin, A. L., Meisler, M. H.

Publikováno v: ResearcherID

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::71f1e6e055274916108c3ead88b79812
http://hdl.handle.net/2318/52025

SCN8A Encephalopathy: Case Report and Literature Review.

Autor: Hueng-Chuen Fan^1,2,3,4 fanhuengchuen@yahoo.com.tw, Hsiu-Fen Lee⁵ leehf@hotmail.com, Ching-Shiang Chi¹ chi-cs@hotmail.com

Publikováno v: Neurology International. Jun2021, Vol. 13 Issue 2, p143-150. 8p.

Partial loss‐of‐function of sodium channel SCN8A in familial isolated myoclonus.

Autor: Wagnon, Jacy L., Mencacci, Niccolò E., Barker, Bryan S., Wengert, Eric R., Bhatia, Kailash P., Balint, Bettina, Carecchio, Miryam, Wood, Nicholas W., Patel, Manoj K., Meisler, Miriam H.

Publikováno v: Human Mutation; Jul2018, Vol. 39 Issue 7, p965-969, 5p