R1617Q epilepsy mutation slows NaV 1.6 sodium channel inactivation and increases the persistent current and neuronal firing.

Abstract excerpt

KEY POINTS: A human NaV 1.6 construct was established to study the biophysical consequences of the R1617Q mutation on NaV 1.6 identified in patients with unclassified epileptic encephalopathy and severe intellectual disability. The R1617Q mutation disrupts the inactivation process of the channel, and more specifically, slows the current decay, increases the persistent sodium current that was blocked by...

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