Epilepsy and sudden unexpected death in epilepsy in a mouse model of human <i>SCN1B</i>-linked developmental and epileptic encephalopathy.

While these data showed a trend towards lower expression of β1-p.C89 protein in mouse brain compared with WT, there were no significant differences between average values. β1 and β1-p.R89C polypeptides localize to the plasma membrane and are substrates for regulated intramembrane proteolysis in heterologous cells Localization to the plasma membrane is required for VGSC β1 subunit-mediated channel regulation and cell adhesion.

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