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Dominant-negative mutation p.Arg324Thr in KCNA1 impairs Kv1.1 channel function in episodic ataxia

AuthorsTristán Clavijo, E. ; Scholl, Francisco G.; Macaya Ruiz, A.; Iglesias Escalera, G.; Rojas, A. M. ; Lucas, Miguel; Castellano, Antonio; Martínez Mir, Amalia
Issue DateNov-2016
PublisherJohn Wiley & Sons
CitationMovement Disorders 31(11): 1743-1748 (2016)
Abstract[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
Publisher version (URL)http://doi.org/10.1002/mds.26737
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