SCN1A variants from bench to bedside—improved clinical prediction from functional characterization-Reference-Cited by-同舟云学术

SCN1A variants from bench to bedside—improved clinical prediction from functional characterization

Published:2019-11-28 Issue:2 Volume:41 Page:363-374
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Brunklaus Andreas¹²^ORCID,Schorge Stephanie³⁴,Smith Alexander D.⁵,Ghanty Ismael¹²,Stewart Kirsty⁶,Gardiner Sarah⁶,Du Juanjiangmeng⁷,Pérez‐Palma Eduardo⁷,Symonds Joseph D.¹²,Collier Abby C.⁵,Lal Dennis⁷⁸⁹¹⁰¹¹,Zuberi Sameer M.¹²

Affiliation:

1. The Paediatric Neurosciences Research GroupRoyal Hospital for ChildrenGlasgow UK

2. School of MedicineUniversity of GlasgowGlasgow UK

3. Department of Clinical and Experimental Epilepsy, Institute of NeurologyUniversity College LondonLondon UK

4. School of PharmacyUniversity College LondonLondon UK

5. Faculty of Pharmaceutical SciencesThe University of British ColumbiaVancouver British Columbia Canada

6. West of Scotland Genetic Services, Level 2B, Laboratory MedicineQueen Elizabeth University HospitalGlasgow UK

7. Cologne Center for Genomics, University Hospital CologneUniversity of CologneCologne Germany

8. Stanley Center for Psychiatric ResearchBroad Institute of MIT and HarvardCambridge Massachusetts

9. Analytic and Translational Genetics UnitMassachusetts General HospitalBoston Massachusetts

10. Epilepsy Center, Neurological InstituteCleveland ClinicCleveland Ohio

11. Genomic Medicine InstituteLerner Research Institute Cleveland ClinicCleveland Ohio

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23943

Reference57 articles.

1. Rescuable folding defective NaV1.1 (SCN1A) mutants in epilepsy: Properties, occurrence, and novel rescuing strategy with peptides targeted to the endoplasmic reticulum

2. SCN1A gain of function in early infantile encephalopathy

3. Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome

4. Genotype phenotype associations across the voltage-gated sodium channel family

5. Dravet syndrome-From epileptic encephalopathy to channelopathy

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