Universität zu Köln

van der Wijst, Jenny ORCID: 0000-0002-1547-516X, Konrad, Martin, Verkaart, Sjoerd A. J., Tkaczyk, Marcin ORCID: 0000-0003-1753-7560, Latta, Femke, Altmueller, Janine, Thieled, Holger, Beck, Bodo, Schlingmann, Karl Peter and de Baaij, Jeroen H. F. (2018). A de novo KCNA1 Mutation in a Patient with Tetany and Hypomagnesemia. Nephron, 139 (4). S. 359 - 367. BASEL: KARGER. ISSN 2235-3186

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Abstract

Mutations in the KCNA1 gene encoding the voltage-gated potassium (K+) channel Kv1.1 have been linked to rare neurological syndromes, episodic ataxia type 1 (EA1) and myokymia. In 2009, a KCNA1 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 (Mg2+) levels in these patients. In the present study, we describe a new de novo KCNA1 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 Mg2+ levels, renal Mg2+ wasting, muscle cramps, and tetanic episodes. Whole exome sequencing identified a p. Leu328Val mutation in KCNA1 encoding the Kv1.1 K+ 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 KCNA1 with hypomagnesemia, thereby emphasizing the need for further evaluation of the clinical phenotypes observed in patients carrying KCNA1 mutations. (C) 2018 S. Karger AG, Basel

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code van der Wijst, Jenny UNSPECIFIED orcid.org/0000-0002-1547-516X UNSPECIFIED Konrad, Martin UNSPECIFIED UNSPECIFIED UNSPECIFIED Verkaart, Sjoerd A. J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Tkaczyk, Marcin UNSPECIFIED orcid.org/0000-0003-1753-7560 UNSPECIFIED Latta, Femke UNSPECIFIED UNSPECIFIED UNSPECIFIED Altmueller, Janine UNSPECIFIED UNSPECIFIED UNSPECIFIED Thieled, Holger UNSPECIFIED UNSPECIFIED UNSPECIFIED Beck, Bodo UNSPECIFIED UNSPECIFIED UNSPECIFIED Schlingmann, Karl Peter UNSPECIFIED UNSPECIFIED UNSPECIFIED de Baaij, Jeroen H. F. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-202287
DOI:	10.1159/000488954
Journal or Publication Title:	Nephron
Volume:	139
Number:	4
Page Range:	S. 359 - 367
Date:	2018
Publisher:	KARGER
Place of Publication:	BASEL
ISSN:	2235-3186
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language POTASSIUM CHANNEL GENE; EPISODIC ATAXIA; PROTEIN; PHENOTYPE Multiple languages Urology & Nephrology Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/20228