Expanding the genotype-phenotype spectrum in SCN8A-related disorders.
- Resource Type
- Academic Journal
- Authors
- Hebbar M; Division of Neurology, Department of Pediatrics, BC Children's Hospital, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.; Al-Taweel N; Division of Neurology, Department of Pediatrics, BC Children's Hospital, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.; Gill I; Division of Neurology, Department of Pediatrics, BC Children's Hospital, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.; Boelman C; Division of Neurology, Department of Pediatrics, BC Children's Hospital, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.; Dean RA; Xenon Pharmaceuticals, 200-3650 Gilmore Way, Burnaby, BC, V5G 4W8, Canada.; Goodchild SJ; Xenon Pharmaceuticals, 200-3650 Gilmore Way, Burnaby, BC, V5G 4W8, Canada.; Mezeyova J; Xenon Pharmaceuticals, 200-3650 Gilmore Way, Burnaby, BC, V5G 4W8, Canada.; Shuart NG; Xenon Pharmaceuticals, 200-3650 Gilmore Way, Burnaby, BC, V5G 4W8, Canada.; Johnson JP Jr; Xenon Pharmaceuticals, 200-3650 Gilmore Way, Burnaby, BC, V5G 4W8, Canada.; Lee J; Division of Neurology, Department of Pediatrics, BC Children's Hospital, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.; Michoulas A; Division of Neurology, Department of Pediatrics, BC Children's Hospital, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.; Huh LL; Division of Neurology, Department of Pediatrics, BC Children's Hospital, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.; Armstrong L; Department of Medical Genetics, BC Children's Hospital, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.; Connolly MB; Division of Neurology, Department of Pediatrics, BC Children's Hospital, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.; Demos MK; Division of Neurology, Department of Pediatrics, BC Children's Hospital, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada. mdemos@cw.bc.ca.
- Source
- Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2377 (Electronic) Linking ISSN: 14712377 NLM ISO Abbreviation: BMC Neurol Subsets: MEDLINE
- Subject
- Language
- English
Background: SCN8A-related disorders are a group of variable conditions caused by pathogenic variations in SCN8A. Online Mendelian Inheritance in Man (OMIM) terms them as developmental and epileptic encephalopathy 13, benign familial infantile seizures 5 or cognitive impairment with or without cerebellar ataxia.
Methods: In this study, we describe clinical and genetic results on eight individuals from six families with SCN8A pathogenic variants identified via exome sequencing.
Results: Clinical findings ranged from normal development with well-controlled epilepsy to significant developmental delay with treatment-resistant epilepsy. Three novel and three reported variants were observed in SCN8A. Electrophysiological analysis in transfected cells revealed a loss-of-function variant in Patient 4.
Conclusions: This work expands the clinical and genotypic spectrum of SCN8A-related disorders and provides electrophysiological results on a novel loss-of-function SCN8A variant.
(© 2024. The Author(s).)