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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 the early onset forms, while a prominent ataxic syndrome with possible cognitive decline, movement disorders, and peripheral neuropathy were observed in the late onset forms. Furthermore, we described a 37-year-old patient with a de novo KCND3 variant [c.901T>C (p.Ser301Pro)], previously reported in dbSNP as rs79821338, and a clinical phenotype paradigmatic of the early onset forms with neurodevelopmental disorder, epilepsy, parkinsonism-dystonia, and ataxia in adulthood, further expanding the clinical spectrum of this condition.

SUBMITTER: Pollini L

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

REPOSITORIES: biostudies-literature

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KCND3-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes.

Pollini Luca L Galosi Serena S Tolve Manuela M Caputi Caterina C Carducci Carla C Carducci Carla C Angeloni Antonio A Leuzzi Vincenzo V

International journal of molecular sciences 20200813 16

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</i ...[more]

PMID: 32823520

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Dataset Information

KCND3-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes.

Publications

<i>KCND3</i>-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes.

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