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Significance Nav 1.1 is a major Nav subtype in the brain. Up to 900 nonsense and missense mutations inSCN1A , the coding gene for Nav 1.1, have been identified in patients with epilepsy syndromes. Here, we report the cryo-EM structure of the human Nav 1.1–β4 complex. Comparative structural analysis of hundreds of missense disease mutations in Nav 1.1 and Nav 1.5, whose structure is reported in the accompanying paper, reveals 70 loci that are common in these two channels. Several clusters, defined as the mutational hotspots, are identified and generally classified as the structural mutations and functional mutations. Our comparative structural analyses establish a framework for structure–function relationship dissection of Nav disease variants and will facilitate development of precision medicine for various sodium channelopathies.

Comparative structural analysis of human Na v 1.1 and Na v 1.5 reveals mutational hotspots for sodium channelopathies

Comparative structural analysis of human Na _v 1.1 and Na _v 1.5 reveals mutational hotspots for sodium channelopathies