Perhaps most interestingly in the context of the effects of Kv6.1 mutations is the recent report that mutations in Kv2.2 have been identified in a cohort of patients exhibiting variable craniofacial and hand dysmorphisms along with neurodevelopmental delay in some cases, thus there may be some overlapping phenotypic features of Kv2.2 and Kv6.1 variants (29). The gene discussed is KCNG1; the disease is Neurodevelopmental delay.