Clinically Relevant KCNQ1 Variants Causing KCNQ1-KCNE2 Gain-of-Function Affect the Ca(2+) Sensitivity of the Channel

Dominant KCNQ1 variants are well-known for underlying cardiac arrhythmia syndromes. The two heterozygous KCNQ1 missense variants, R116L and P369L, cause an allelic disorder characterized by pituitary hormone deficiency and maternally inherited gingival fibromatosis. Increased K(+) conductance upon c...

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Detalles Bibliográficos
Autores principales: Bauer, Christiane K., Holling, Tess, Horn, Denise, Laço, Mário Nôro, Abdalla, Ebtesam, Omar, Omneya Magdy, Alawi, Malik, Kutsche, Kerstin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9456291/
https://www.ncbi.nlm.nih.gov/pubmed/36077086
http://dx.doi.org/10.3390/ijms23179690

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9456291/
https://www.ncbi.nlm.nih.gov/pubmed/36077086
http://dx.doi.org/10.3390/ijms23179690

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