Key result
The SCN1B gene and its variants, which encode sodium channel β1-subunits, are associated with human diseases such as epilepsy, Brugada syndrome, Dravet syndrome, and cancers.
Why the study?
SCN1B-encoded beta1- and beta1B-subunits are linked to human diseases such as Brugada syndrome and epilepsy, prompting an overview of SCN1B structure, expression, physiological roles, and disease involvement.
This review provides a comprehensive overview of the SCN1B gene, highlighting its critical role in regulating sodium channel function and its association with various channelopathies and diseases.
BACKGROUND: Voltage-gated sodium channels are protein complexes composed of 2 subunits, namely, pore-forming α- and regulatory β-subunits. A β-subunit consists of 5 proteins encoded by 4 genes (i.e., SCN1B-SCN4B). SUMMARY: β1-Subunits regulate sodium ion channel functions, including gating properties, subcellular localization, and kinetics. Key Message: Sodium channel β1- and its variant β1B-subunits are encoded by SCN1B. These variants are associated with many human diseases, such as epilepsy, Brugada syndrome, Dravet syndrome, and cancers. On the basis of previous research, we aimed to provide an overview of the structure, expression, and involvement of SCN1B in physiological processes and focused on its role in diseases.
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Al-Ward et al. (2020) conducted a review in Epilepsy, Brugada syndrome, Dravet syndrome, and cancers. SCN1B gene was evaluated. The SCN1B gene and its variants, which encode sodium channel β1-subunits, are associated with human diseases such as epilepsy, Brugada syndrome, Dravet syndrome, and cancers.
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