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 in 68 reported cases. We delineated two main clinical phenotypes according to the age of onset. Neurodevelopmental disorder with epilepsy and/or movement disorders with ataxia later in the disease course characterized

SUBMITTER: Pollini L 

PROVIDER: S-EPMC7461103 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature