Cargando…
Investigation of CACNA1I Cav3.3 Dysfunction in Hemiplegic Migraine
Familial hemiplegic migraine (FHM) is a severe neurogenetic disorder for which three causal genes, CACNA1A, SCN1A, and ATP1A2, have been implicated. However, more than 80% of referred diagnostic cases of hemiplegic migraine (HM) are negative for exonic mutations in these known FHM genes, suggesting...
Autores principales: | Maksemous, Neven, Blayney, Claire D., Sutherland, Heidi G., Smith, Robert A., Lea, Rod A., Tran, Kim Ngan, Ibrahim, Omar, McArthur, Jeffrey R., Haupt, Larisa M., Cader, M. Zameel, Finol-Urdaneta, Rocio K., Adams, David J., Griffiths, Lyn R. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9345121/ https://www.ncbi.nlm.nih.gov/pubmed/35928792 http://dx.doi.org/10.3389/fnmol.2022.892820 |
Ejemplares similares
-
Whole Exome Sequencing of Hemiplegic Migraine Patients Shows an Increased Burden of Missense Variants in CACNA1H and CACNA1I Genes
por: Maksemous, Neven, et al.
Publicado: (2023) -
Comprehensive Exonic Sequencing of Hemiplegic Migraine-Related Genes in a Cohort of Suspected Probands Identifies Known and Potential Pathogenic Variants
por: Sutherland, Heidi G., et al.
Publicado: (2020) -
Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients
por: Maksemous, Neven, et al.
Publicado: (2016) -
Next‐generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2
por: Maksemous, Neven, et al.
Publicado: (2016) -
Comprehensive Exonic Sequencing of Known Ataxia Genes in Episodic Ataxia
por: Maksemous, Neven, et al.
Publicado: (2020)