{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T08:09:00Z","timestamp":1787731740968,"version":"build-2784847793"},"reference-count":26,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nephron"],"published-print":{"date-parts":[[2018]]},"abstract":"Mutations in the <i>KCNA1<\/i> gene encoding the voltage-gated potassium (K<sup>+<\/sup>) channel Kv1.1 have been linked to rare neurological syndromes, episodic ataxia type 1 (EA1) and myokymia. In 2009, a <i>KCNA1<\/i> mutation was identified in a large family with autosomal dominant hypomagnesemia. Despite efforts in establishing a genotype-phenotype correlation for the wide variety of symptoms in EA1, little is known on the serum magnesium (Mg<sup>2+<\/sup>) levels in these patients. In the present study, we describe a new de novo <i>KCNA1<\/i> mutation in a Polish patient with tetany and hypomagnesemia. Electrophysiological and biochemical analyses were performed to determine the pathogenicity of the mutation. A female patient presented with low serum Mg<sup>2+<\/sup> levels, renal Mg<sup>2+<\/sup> wasting, muscle cramps, and tetanic episodes. Whole exome sequencing identified a p.Leu328Val mutation in <i>KCNA1<\/i> encoding the Kv1.1 K<sup>+<\/sup> channel. Electrophysiological examinations demonstrated that the p.Leu328Val mutation caused a dominant-negative loss of function of the encoded Kv1.1 channel. Cell surface biotinylation showed normal plasma membrane expression. Taken together, this is the second report linking <i>KCNA1<\/i> with hypomagnesemia, thereby emphasizing the need for further evaluation of the clinical phenotypes observed in patients carrying <i>KCNA1<\/i> mutations.<\/jats:p>","DOI":"10.1159\/000488954","type":"journal-article","created":{"date-parts":[[2018,5,23]],"date-time":"2018-05-23T21:01:19Z","timestamp":1527109279000},"page":"359-366","source":"Crossref","is-referenced-by-count":20,"title":["A de novo <b><i>KCNA1<\/i><\/b> Mutation in a Patient with Tetany and 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