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Título: | Dominant-negative mutation p.Arg324Thr in KCNA1 impairs Kv1.1 channel function in episodic ataxia |
Autor: | Tristán Clavijo, E. CSIC; Scholl, Francisco G.; Macaya Ruiz, A.; Iglesias Escalera, G.; Rojas Mendoza, Ana M. CSIC ORCID ; Lucas, Miguel; Castellano, Antonio CSIC ORCID; Martínez Mir, Amalia CSIC ORCID | Fecha de publicación: | nov-2016 | Editor: | John Wiley & Sons | Citación: | Movement Disorders 31(11): 1743-1748 (2016) | Resumen: | [Background] Episodic ataxia type 1 is a rare autosomal dominant neurological disorder caused by mutations in the KCNA1 gene that encodes the α subunit of voltage-gated potassium channel Kv1.1. The functional consequences of identified mutations on channel function do not fully correlate with the clinical phenotype of patients. [Methods] A clinical and genetic study was performed in a family with 5 patients with episodic ataxia type 1, with concurrent epilepsy in 1 of them. Protein expression, modeling, and electrophysiological analyses were performed to study Kv1.1 function. [Results] Whole-genome linkage and candidate gene analyses revealed the novel heterozygous mutation p.Arg324Thr in the KCNA1 gene. The encoded mutant Kv1.1 channel displays reduced currents and altered activation and inactivation. [Conclusions] Taken together, we provide genetic and functional evidence that mutation p.Arg324Thr in the KCNA1 gene is pathogenic and results in episodic ataxia type 1 through a dominant-negative effect. © 2016 International Parkinson and Movement Disorder Society |
Versión del editor: | http://doi.org/10.1002/mds.26737 | URI: | http://hdl.handle.net/10261/153507 | DOI: | 10.1002/mds.26737 | ISSN: | 0885-3185 | E-ISSN: | 1531-8257 |
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