<i>KCNA4</i> deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability

Abstract

<i>KCNA4</i> (Kv1.4) is implicated in a novel syndrome characterised by striatal thinning, congenital cataract and attention deficit hyperactivity disorder. Our study highlights potassium channels' role in ocular and neuronal genetics.