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SCN2A activates sodium(1+). 6 / 6
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"On the other hand, it was recently shown that SUMOylation of NaV1.2, an α-subunit of voltage-gated sodium (Na v ) channel that is widely distributed in the brain, underlies the immediate increase in v[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
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"Three recognized sodium channel gene EEs are caused by mutations in SCN8A, SCN1A (Dravet syndrome), SCN2A, and SCN8A."
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"Mutations in SCN2A are thought to cause epileptic seizures by allowing an excess of sodium to enter affected neurons, causing the neurons to aberrantly fire action potentials."
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"We compared sodium currents mediated by SCN2A‐WT‐N and ‐A with SCN2A‐p.Thr400Arg, Ile1640Asn, and Met1770‐Leu‐N and ‐A. Similar to the results obtained with manual patch‐clamp recording, the automated patch‐clamp recording showed that Ile1640Asn, in both the adult and neonatal splice isoforms, showed smaller currents relative with WT, whereas current density for both Thr400Arg and Met1770Leu was similar to WT (Figure 4A,B and Table SS1)."
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"A similar phenomenon has been observed in benign familial neonatal-infantile seizures caused by mutations in the SCN2A gene, encoding the sodium channel Nav1.2, which is expressed transiently during d[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
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"Endogenous sodium currents are mainly mediated by Nav1.6 and Nav1.7, but also Nav1.1, Nav1.2, Nav1.3 and Nav1.9 at low levels ( Lee et al., 2019 )."
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