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

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

Publikováno v: The Canadian Journal of Neurological Sciences; November 2021, Vol. 48 Issue: Supplement 3 pS53-S53, 1p

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.