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 |