K
Karin Jurkat-Rott
Researcher at University of Ulm
Publications - 145
Citations - 7129
Karin Jurkat-Rott is an academic researcher from University of Ulm. The author has contributed to research in topics: Skeletal muscle & Myotonia. The author has an hindex of 47, co-authored 143 publications receiving 6635 citations. Previous affiliations of Karin Jurkat-Rott include German Cancer Research Center.
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Voltage-Gated Ion Channels and Hereditary Disease
TL;DR: Unique among reviews of this topic is that all known human hereditary diseases of voltage-gated ion channels are described covering various fields of medicine such as neurology, nephrology, and cardiology, with interesting parallels in mechanisms of disease emphasized.
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Genetics and pathogenesis of malignant hyperthermia.
TL;DR: As a result of extensive research on the mechanisms of excitation‐contraction coupling and recent functional characterization of several disease‐causing mutations in heterologous expression systems, much is known about the molecular etiology of MH.
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Voltage-sensor Sodium Channel Mutations Cause Hypokalemic Periodic Paralysis Type 2 by Enhanced Inactivation and Reduced Current
Karin Jurkat-Rott,Nenad Mitrovic,Chao Hang,Alexei Kouzmenkine,Paul A. Iaizzo,Jürgen Herzog,Jürgen Herzog,Holger Lerche,Sophie Nicole,J. Vale-Santos,Dominique Chauveau,Bertrand Fontaine,Frank Lehmann-Horn +12 more
TL;DR: The results prove that SCN4A, the gene encoding the sodium channel alpha subunit of skeletal muscle is responsible for HypoPP-2, a disease caused by enhanced channel inactivation and current reduction showing no myotonia.
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Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families
Bertrand Fontaine,J. Vale-Santos,Karin Jurkat-Rott,J. Reboul,E Plassart,Rime Cs,Alexis Elbaz,R Heine,João Guimarães,Jean Weissenbach +9 more
TL;DR: Performing a genome–wide search using polymorphic dinucleotide repeats, it is demonstrated that the gene encoding the muscle DHP–sensitive calcium channel α1 subunit (CACNL1A3) maps to the same region, sharing a 5 centiMorgan (cM) interval with the HypoPP locus.
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Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A.
Damien Sternberg,Thierry Maisonobe,Karin Jurkat-Rott,Sophie Nicole,Erika Launay,Dominique Chauveau,Nacira Tabti,Frank Lehmann-Horn,Bernard Hainque,Bertrand Fontaine +9 more
TL;DR: A complete penetrance in men and women, an early age at onset, postcritic myalgias and an increased number and severity of attacks induced by acetazolamide are observed in a large hypoPP family carrying an SCN4A mutation.