Cargando…
SCN1A channelopathies: Navigating from genotype to neural circuit dysfunction
The SCN1A gene is strongly associated with epilepsy and plays a central role for supporting cortical excitation-inhibition balance through the expression of Na(V)1.1 within inhibitory interneurons. The phenotype of SCN1A disorders has been conceptualized as driven primarily by impaired interneuron f...
Autores principales: | Bryson, Alexander, Petrou, Steven |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10149698/ https://www.ncbi.nlm.nih.gov/pubmed/37139072 http://dx.doi.org/10.3389/fneur.2023.1173460 |
Ejemplares similares
-
An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies
por: Morales, Fernando, et al.
Publicado: (2020) -
Disease Modifiers of Inherited SCN5A Channelopathy
por: Verkerk, Arie O., et al.
Publicado: (2018) -
Autoimmune Channelopathies at Neuromuscular Junction
por: Huang, Kun, et al.
Publicado: (2019) -
Association Between SCN1A rs2298771, SCN1A rs10188577, SCN2A rs17183814, and SCN2A rs2304016 Polymorphisms and Responsiveness to Antiepileptic Drugs: A Meta-Analysis
por: Li, Mengmeng, et al.
Publicado: (2021) -
Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy
por: Lee, Sang-Chan, et al.
Publicado: (2009)