KCND3-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes
Abstract: KCND3 encodes the voltage-gated potassium ion channel subfamily D member 3, a six
trans-membrane protein (Kv4.3), involved in the transient outward K+ current. KCND3 defect
causes both cardiological and neurological syndromes. From a neurological perspective, Kv4.3
defect has been associated to SCA type 19/22, a complex neurological disorder encompassing a
wide spectrum of clinical features beside ataxia. To better define the phenotypic spectrum and
course of KCND3-related neurological disorder, we review the clinical presentation and evolution