Functional consequences of a KCNT1 variant associated with status dystonicus and early‐onset infantile encephalopathy
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DOI: 10.1002/acn3.50847
Abstract: We identified a novel de novo KCNT1 variant in a patient with early‐infantile epileptic encephalopathy (EIEE) and status dystonicus, a life‐threatening movement disorder. We determined the functional consequences of this variant on the encoded KNa1.1… read more here.
Keywords: kcnt1 variant; functional consequences; status dystonicus;