P.120 Case series: Clinical and genetic spectrum of SCN8A-related disorders in British Columbia

Autor: M Hebbar, N Al-Taweel, I Gill, C Boelman, RA Dean, SJ Goodchild, J Mezeyova, NG Shuart, JP Johnson, J Lee, A Michoulas, LL Huh, L Armstrong, MB Connolly, M Demos

Publikováno v: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 48:S53-S53

Background: Children with pathogenic variations in SCN8A can present with early infantile epileptic encephalopathy-13, benign familial infantile seizures-5 or intellectual disability alone without epilepsy. In this case series, we discuss six childre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f45c9f34b19901212d13d0365babedba
https://doi.org/10.1017/cjn.2021.396

Metallurgical characterization of experimental Ag-based soldering alloys

Autor: Ntasi, A. Al Jabbari, Y.S. Silikas, N. Al Taweel, S.M. Zinelis, S.

Aim: To characterize microstructure, hardness and thermal properties of experimental Ag-based soldering alloys for dental applications. Materials and methods: Ag12Ga (AgGa) and Ag10Ga5Sn (AgGaSn) were fabricated by induction melting. Six samples were

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::2e772606f8bedfd8e92d4c2594b4fe40
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2990922

Expanding the genotype-phenotype spectrum in SCN8A-related disorders.

Autor: Hebbar M; Division of Neurology, Department of Pediatrics, BC Children's Hospital, Faculty of Medicine, University of British Columbia, Vancouver BC., Al-Taweel N; Division of Neurology, Department of Pediatrics, BC Children's Hospital, Faculty of Medicine, University of British Columbia, Vancouver BC., Gill I; Division of Neurology, Department of Pediatrics, BC Children's Hospital, Faculty of Medicine, University of British Columbia, Vancouver BC., Boelman C; Division of Neurology, Department of Pediatrics, BC Children's Hospital, Faculty of Medicine, University of British Columbia, Vancouver BC., Dean RA; Xenon Pharmaceuticals, 200-3650 Gilmore Way, Burnaby, BC V5G 4W8., Goodchild SJ; Xenon Pharmaceuticals, 200-3650 Gilmore Way, Burnaby, BC V5G 4W8., Mezeyova J; Xenon Pharmaceuticals, 200-3650 Gilmore Way, Burnaby, BC V5G 4W8., Shuart NG; Xenon Pharmaceuticals, 200-3650 Gilmore Way, Burnaby, BC V5G 4W8., Johnson JP; Xenon Pharmaceuticals, 200-3650 Gilmore Way, Burnaby, BC V5G 4W8., Lee J; Division of Neurology, Department of Pediatrics, BC Children's Hospital, Faculty of Medicine, University of British Columbia, Vancouver BC., Michoulas A; Division of Neurology, Department of Pediatrics, BC Children's Hospital, Faculty of Medicine, University of British Columbia, Vancouver BC., Huh LL; Division of Neurology, Department of Pediatrics, BC Children's Hospital, Faculty of Medicine, University of British Columbia, Vancouver BC., Armstrong L; Department of Medical Genetics, BC Children's Hospital, Faculty of Medicine, University of British Columbia, Vancouver BC., Connolly MB; Division of Neurology, Department of Pediatrics, BC Children's Hospital, Faculty of Medicine, University of British Columbia, Vancouver BC., Demos MK; Division of Neurology, Department of Pediatrics, BC Children's Hospital, Faculty of Medicine, University of British Columbia, Vancouver BC.

Publikováno v: Research square [Res Sq] 2023 Aug 08. Date of Electronic Publication: 2023 Aug 08.