Whole Exome Sequencing Identifies a Heterozygous Variant in the Cav1.3 Gene CACNA1D Associated with Familial Sinus Node Dysfunction and Focal Idiopathic Epilepsy

Cav1.3 voltage-gated L-type calcium channels (LTCCs) are involved in cardiac pacemaking, hearing and hormone secretion, but are also expressed postsynaptically in neurons. So far, homozygous loss of function mutations in CACNA1D encoding the Cav1.3 α(1)-subunit are described in congenital sinus node...

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Detalles Bibliográficos
Autores principales: Rinné, Susanne, Stallmeyer, Birgit, Pinggera, Alexandra, Netter, Michael F., Matschke, Lina A., Dittmann, Sven, Kirchhefer, Uwe, Neudorf, Ulrich, Opp, Joachim, Striessnig, Jörg, Decher, Niels, Schulze-Bahr, Eric
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
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Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9693521/
https://www.ncbi.nlm.nih.gov/pubmed/36430690
http://dx.doi.org/10.3390/ijms232214215

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9693521/
https://www.ncbi.nlm.nih.gov/pubmed/36430690
http://dx.doi.org/10.3390/ijms232214215

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