Molecular Screening of SCN1A ‐Related Seizures in Children With Febrile Seizures: Diagnostic Yield and Variant Distribution
Sign Up to like & getrecommendations! Published in 2025 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.70114
Abstract: SCN1A‐related seizures first present as febrile seizures (FS). Definitive features emerge later, making early diagnosis challenging. We evaluated the diagnostic yield and clinical characteristics of pathogenic SCN1A variants in FS, and analyzed the effect of… read more here.
Keywords: scn1a related; febrile seizures; related seizures; diagnostic yield ... See more keywords
Modifier genes in SCN1A‐related epilepsy syndromes
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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