Article
KCND3-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes.
International journal of molecular sciences - 13 Aug 2020
Pollini Luca, Galosi Serena, Tolve Manuela, Caputi Caterina, Carducci Carla, Angeloni Antonio, Leuzzi Vincenzo
Abstract excerpt
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...
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