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

Whole Exome Sequencing Identifies a Heterozygous Variant in the Cav1.3 Gene <i>CACNA1D</i> 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 <i>CACNA1D</i> encoding the Cav1.3 α<sub>1</sub>-subuni...

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Bibliographic Details
Main Authors: Susanne Rinné, Birgit Stallmeyer, Alexandra Pinggera, Michael F. Netter, Lina A. Matschke, Sven Dittmann, Uwe Kirchhefer, Ulrich Neudorf, Joachim Opp, Jörg Striessnig, Niels Decher, Eric Schulze-Bahr
Format: Article
Language:English
Published: MDPI AG 2022-11-01
Series:International Journal of Molecular Sciences
Subjects:
calcium channel
Cav1.3
sinoatrial node dysfunction
focal idiopathic epilepsy
Online Access:https://www.mdpi.com/1422-0067/23/22/14215

Internet

https://www.mdpi.com/1422-0067/23/22/14215

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