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Among these, de novo mutations in the SCN1A gene, which encodes the voltage-gated NaV1.1 sodium channel, are causally involved in the development of Dravet syndrome (DS), a severe epileptic encephalopathy with onset in early childhood (Claes et al., 2001
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Laboratory applications may include enzyme-inhibition assays, molecular pathway characterization, analytical comparison, and other controlled experimental models involving NNMT- and NAD⁺-associated processes
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