Clinical Spectrum of KCNA1 Mutations: New Insights into Episodic Ataxia and Epilepsy Comorbidity

Mutations in the KCNA1 gene, which encodes voltage-gated Kv1.1 potassium channel α-subunits, cause a variety of human diseases, complicating simple genotype–phenotype correlations in patients. KCNA1 mutations are primarily associated with a rare neurological movement disorder known as episodic ataxi...

Descripción completa

Detalles Bibliográficos
Autores principales: Paulhus, Kelsey, Ammerman, Lauren, Glasscock, Edward
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7215408/
https://www.ncbi.nlm.nih.gov/pubmed/32316562
http://dx.doi.org/10.3390/ijms21082802

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7215408/
https://www.ncbi.nlm.nih.gov/pubmed/32316562
http://dx.doi.org/10.3390/ijms21082802

Ejemplares similares