Cargando…
SCN1A Mutation—Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis
Background: SCN1A is one of the most common epilepsy genes. About 80% of SCN1A gene mutations cause Dravet syndrome (DS), which is a severe and catastrophic epileptic encephalopathy. More than 1,800 mutations have been identified in SCN1A. Although it is known that SCN1A is the main cause of DS and...
Autores principales: | Ding, Jiangwei, Li, Xinxiao, Tian, Haiyan, Wang, Lei, Guo, Baorui, Wang, Yangyang, Li, Wenchao, Wang, Feng, Sun, Tao |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8739186/ https://www.ncbi.nlm.nih.gov/pubmed/35002916 http://dx.doi.org/10.3389/fneur.2021.743726 |
Ejemplares similares
-
Do All Roads Lead to Rome? Genes Causing Dravet Syndrome and Dravet Syndrome-Like Phenotypes
por: Ding, Jiangwei, et al.
Publicado: (2022) -
Up to What Extent Does Dravet Syndrome Benefit From Neurostimulation Techniques?
por: Ding, Jiangwei, et al.
Publicado: (2022) -
Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome
por: Gonsales, Marina C., et al.
Publicado: (2019) -
Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations
por: Cho, Min Jung, et al.
Publicado: (2018) -
Dravet syndrome: a new causative SCN1A mutation?
por: Poryo, Martin, et al.
Publicado: (2017)