Modifier genes in SCN1A‐related epilepsy syndromes
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1103
Abstract: SCN1A is one of the most important epilepsy‐related genes, with pathogenic variants leading to a range of phenotypes with varying disease severity. Different modifying factors have been hypothesized to influence SCN1A‐related phenotypes. We investigate the… read more here.
Keywords: epilepsy; epilepsy syndromes; related epilepsy; modifier genes ... See more keywords
A rise in saliva and urine pH in children with SCN1A-related epilepsy: An exploratory prospective controlled study
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2022.982050
Abstract: Objective SCN1A, encoding the alpha 1 subunit of the sodium channel, is associated with a range of related epilepsy. This study aims to assess saliva and urine pH in children with SCN1A-related epilepsy. Methods A… read more here.
Keywords: scn1a related; related epilepsy; saliva urine; urine children ... See more keywords