Article
SCN1A variants from bench to bedside-improved clinical prediction from functional characterization.
Human mutation - 1 Feb 2020
Brunklaus Andreas, Schorge Stephanie, Smith Alexander D, Ghanty Ismael, Stewart Kirsty, Gardiner Sarah, Du Juanjiangmeng, Pérez-Palma Eduardo, Symonds Joseph D, Collier Abby C, Lal Dennis, Zuberi Sameer M
Abstract excerpt
Variants in the SCN1A gene are associated with a wide range of disorders including genetic epilepsy with febrile seizures plus (GEFS+), familial hemiplegic migraine (FHM), and the severe childhood epilepsy Dravet syndrome (DS). Predicting disease outcomes based on variant type remains challenging. Despite thousands of SCN1A variants being reported, only a minority has been functionally assessed. We review the...
Topics
- Animals
- Biomarkers
- Computational Biology
- Genetic Association Studies
- Genetic Predisposition to Disease
- Genetic Variation
- Genotype
- Humans
- Mutation
- Mutation, Missense
- NAV1.1 Voltage-Gated Sodium Channel
- Patch-Clamp Techniques