Clinical Study of 30 Novel KCNQ2 Variants/Deletions in KCNQ2-Related Disorders

Abstract

In this study, patients with novel <i>KCNQ2</i> variants have variable phenotypes, whereas patients with 20q13.3 deletion involving <i>EEF1A2, KCNQ2</i>, and <i>CHRNA4</i> genes tend to have normal neurological development.