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. 2020 Apr 14;152(5):e201912468. doi: 10.1085/jgp.201912468

Table 1. Comparison of NaV1.2 L1563V and R1882Q electrophysiology studies.

Disease SCN2A α subunit Experimental conditions Channel electrophysiological properties Reference
Mutation Species Isoform Exogenous β1/β2 subunit Cell type Current density V-dependent activation V-dependent inactivation Fast inactivation time constant τ Persistent inward current Recovery from inactivation
BFNIS L1563V Human Neonatal Neither tsA201 Unchanged Unchanged Depolarized Greater Unchanged Quicker Xu et al., 2007
Adult Neither tsA201 Unchanged
Adult β1 and β2 tsA201 Decreased Unchanged Depolarized Greater Unchanged Quicker Misra et al., 2008
Adult Neither Chinese hamster ovarian cells Unchanged Depolarized Depolarized Like the adult WT Unchanged Quicker Berecki et al., 2018
Adult β1 and β2 HEK293T Unchanged Unchanged Depolarized Like the adult WT Unchanged Unchanged Begemann et al., 2019
EIMFS R1882Q Human Adult Neither Chinese hamster ovarian cells Increased Hyperpolarized Depolarized Greater Increased Unchanged Berecki et al., 2018
Neonatal β1 and β2 tsA201 Unchanged Unchanged Depolarized Greater Unchanged Unchanged Thompson et al., 2020
Adult β1 and β2 tsA201 Unchanged Depolarized Depolarized Greater Unchanged Unchanged