A Novel DLG1 Variant in a Family with Brugada Syndrome: Clinical Characteristics and In Silico Analysis.

Maria d'ApolitoFrancesco SantoroRosa SantacroceGiorgia CordiscoIlaria RagnatelaGirolamo D'ArienzoPier Luigi PellegrinoNatale Daniele BrunettiMaurizio Margaglione

Published in: Genes (2023)

A DLG1 gene variant identified was associated with BrS. The variant could modify the formation of multichannel protein complexes, affecting ion channels to specific compartments in cardiomyocytes.

Keyphrases

copy number
molecular docking
genome wide
case report
gene expression
small molecule
amino acid