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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...

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PMID: 31782251
DOI: 10.1002/humu.23943

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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