A missense mutation in KCNA4 causes a novel syndrome characterized by unique basal ganglia involvement (thinning of the putamena and swelling of caudate heads) and cataract, which are the cardinal features of the syndrome. The functional impairment of the channels, in other words decreased activity of KV1.4, leads to microcephaly, intellectual disability, growth retardation, cataract, glaucoma, dystonia, dysarthria, severe linguistic delay, atrophic charges in putamena, swelling of caudate head and decreased signal intensities in basal ganglia.
Unknown, limited to a single reported family in the world.
Mutations of this gene can be passed on to the next generation in an autosomal recessive manner. This means that if both parents carry a mutation involving this gene (usually without displaying the disease), there is a greater chance that their children are going to inherit the mutations from both parents and display the disease. This is especially important to consider in consanguineous marriage, where the chance of both parents having the same mutation and passing it is greater.