Neonatal Diabetes in Patients Affected by Liang-Wang Syndrome Carrying KCNMA1 Variant p.(Gly375Arg) Suggest a Potential Role of Ca(2+) and Voltage-Activated K(+) Channel Activity in Human Insulin Secretion

Liang-Wang syndrome (LIWAS) is a polymalformative syndrome first described in 2019 caused by heterozygous mutation of the KCNMA1 gene encoding the Ca(2+) and voltage-activated K(+) channel (BKC). The KCNMA1 variant p.(Gly356Arg) abolishes the function of BKC and blocks the generation of K(+) current...

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Detalles Bibliográficos
Autores principales: Mameli, Chiara, Cazzola, Roberta, Spaccini, Luigina, Calcaterra, Valeria, Macedoni, Maddalena, La Verde, Paola Azzurra, D’Auria, Enza, Verduci, Elvira, Lista, Gianluca, Zuccotti, Gian Vincenzo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8928946/
https://www.ncbi.nlm.nih.gov/pubmed/34563042
http://dx.doi.org/10.3390/cimb43020073

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