Mutations in the Scn8a DIIS4 voltage sensor reveal new distinctions among hypomorphic and null Nav1.6 sodium channels
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DOI: 10.1111/gbb.12612
Abstract: Mutations in the voltage‐gated sodium channel gene SCN8A cause a broad range of human diseases, including epilepsy, intellectual disability, and ataxia. Here we describe three mouse lines on the C57BL/6J background with novel, overlapping mutations… read more here.
Keywords: voltage; diis4 voltage; scn8a diis4; scn8a ... See more keywords