<i>MAP3K6</i> Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor

Abstract

Our data strongly suggest the <i>MAP3K6</i> variant to be causative for this novel disease phenotype, but the absence of functional data and the present lack of additional families with this disease and <i>MAP3K6</i> mutations still limit the formal evidence for the variant's pathogenicity.