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Karin Jurkat-Rott

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Physiology

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Werner Klingler; Frank Lehmann-Horn; Karin Jurkat-Rott; Robert Schleip
The role of fibrosis in Duchenne muscular dystrophy.
Michael Fauler; Karin Jurkat-Rott; Frank Lehmann-Horn
Membrane excitability and excitation-contraction uncoupling in muscle fatigue.
Simona-Felicia Ursu; Ning-Hui Mao; Alexi K. Alekov; Karin Jurkat-Rott
ClC1 chloride channel in myotonic dystrophy type 2 and ClC1 splicing in vitro.

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All Publications

2012: Werner Klingler; Frank Lehmann-Horn; Karin Jurkat-Rott; Robert Schleip
The role of fibrosis in Duchenne muscular dystrophy.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 2012;31(3):184-95.
2012: Michael Fauler; Karin Jurkat-Rott; Frank Lehmann-Horn
Membrane excitability and excitation-contraction uncoupling in muscle fatigue.
Neuromuscular disorders : NMD 2012;22 Suppl 3():S162-7.
2012: Simona-Felicia Ursu; Ning-Hui Mao; Alexi K. Alekov; Karin Jurkat-Rott
ClC1 chloride channel in myotonic dystrophy type 2 and ClC1 splicing in vitro.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 2012;31(2):144-53.
2012: Deborah Cavel-Greant; Frank Lehmann-Horn; Karin Jurkat-Rott
The impact of permanent muscle weakness on quality of life in periodic paralysis: a survey of 66 patients.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 2012;31(2):126-33.
2012: Sebastian Weinberger; Daniel Wojciechowski; Karin Jurkat-Rott; Frank Lehmann-Horn; Damien Sternberg; Toni Becher; Birgit Begemann; Christoph Fahlke; Martin Fischer
Disease-causing mutations C277R and C277Y modify gating of human ClC-1 chloride channels in myotonia congenita.
The Journal of physiology 2012;590(Pt 15):3449-64.
2012: Erick Amarteifio; Karin Jurkat-Rott; Armin M Nagel; Marc-André Weber; Frank Lehmann-Horn
Hyperkalemic periodic paralysis and permanent weakness: 3-T MR imaging depicts intracellular 23Na overload--initial results.
Radiology 2012;264(1):154-63.
2012: Frank Lehmann-Horn; Hans-Michael Meinck; Armin M Nagel; Johannes Scharrer; Marc-André Weber; Simon Breitenbach; Karin Jurkat-Rott
Rationale for treating oedema in Duchenne muscular dystrophy with eplerenone.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 2012;31(1):31-9.
2012: Daniel Zielonka; Anna Bryl; Karin Jurkat-Rott; Jerzy T Marcinkowski; Paweł Stachowiak; Frank Lehmann-Horn
A Becker myotonia patient with compound heterozygosity for CLCN1 mutations and Prinzmetal angina pectoris.
Neuromuscular disorders : NMD 2012;22(4):355-60.
2012: Guiscard Seebohm; Klaus Steinmeyer; Nathalie Strutz-Seebohm; Daniel Tapken; Jeremy M Tavaré; Oana N Ursu; Marylou Zuzarte; Frank Lehmann-Horn; Lutz Pott; Regina Preisig-Müller; Said Bendahhou; Wilhelm Bloch; Anthony Collins; Jürgen Daut; Niels Decher; Michael Fauler; Elaine V Hill; Karin Jurkat-Rott; Marie-Cécile Kienitz; Florian Lang
Altered stress stimulation of inward rectifier potassium channels in Andersen-Tawil syndrome.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2012;26(2):513-22.
2012: Karin Jurkat-Rott; James Groome; Frank Lehmann-Horn
Pathophysiological role of omega pore current in channelopathies.
Frontiers in pharmacology 2012;3():112.
2011: Armin Michael Nagel; Lothar R Schad; Wolfhard Semmler; Erick Amarteifio; Karin Jurkat-Rott; Frank Lehmann-Horn; Marc-André Weber
3 Tesla sodium inversion recovery magnetic resonance imaging allows for improved visualization of intracellular sodium content changes in muscular channelopathies.
Investigative radiology 2011;46(12):759-66.
2011: Frank Lehmann-Horn; Werner Klingler; Karin Jurkat-Rott
Nonanesthetic malignant hyperthermia.
Anesthesiology 2011;115(5):915-7.
2011: Frank Lehmann-Horn; M Orth; M Kuhn; Karin Jurkat-Rott
A novel N440K sodium channel mutation causes myotonia with exercise-induced weakness--exclusion of CLCN1 exon deletion/duplication by MLPA.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 2011;30(2):133-7.
2011: Michael Strupp; C Adrion; Thomas Brandt; J Claassen; Martin Dichgans; Tobias Freilinger; J C Jen; Karin Jurkat-Rott; Roger Kalla; Thomas Klopstock; Frank Lehmann-Horn; U Mansmann; H Neugebauer; R Spiegel; Klaus Jahn
A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias.
Neurology 2011;77(3):269-75.
2011: Karin Jurkat-Rott; Holger Lerche; Frank Lehmann-Horn
[Muscle channelopathies. Myotonias and periodic paralyses].
Der Nervenarzt 2011;82(4):511-20; quiz 521.
2010: Karin Jurkat-Rott; Boris Holzherr; Michael Fauler; Frank Lehmann-Horn
Sodium channelopathies of skeletal muscle result from gain or loss of function.
Pflügers Archiv : European journal of physiology 2010;460(2):239-48.
2010: Yvonne G Weber; R Roebling; Jan Kassubek; S Hoffmann; A Rosenbohm; M Wolf; Peter Steinbach; Karin Jurkat-Rott; H Walter; S N Reske; Frank Lehmann-Horn; Felix Mottaghy; Holger Lerche
Comparative analysis of brain structure, metabolism, and cognition in myotonic dystrophy 1 and 2.
Neurology 2010;74(14):1108-17.
2010: Karin Jurkat-Rott; Holger Lerche; Yvonne Weber; Frank Lehmann-Horn
Hereditary channelopathies in neurology.
Advances in experimental medicine and biology 2010;686():305-34.
2009: Karin Jurkat-Rott; Marc-André Weber; Michael Fauler; Xiu-Hai Guo; Boris D Holzherr; Agathe Paczulla; Nikolai Nordsborg; Wolfgang Joechle; Frank Lehmann-Horn
K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaks.
Proceedings of the National Academy of Sciences of the United States of America 2009;106(10):4036-41.
2009: Petronel Tuluc; Natalia Molenda; Bettina Schlick; Gerald Obermair; Bernhard E Flucher; Karin Jurkat-Rott
A CaV1.1 Ca2+ channel splice variant with high conductance and voltage-sensitivity alters EC coupling in developing skeletal muscle.
Biophysical journal 2009;96(1):35-44.
2008: Frank Lehmann-Horn; Karin Jurkat-Rott; R Rüdel
Diagnostics and therapy of muscle channelopathies--Guidelines of the Ulm Muscle Centre.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 2008;27():98-113.
2008: Thomas V Wuttke; Johann Penzien; Michael Fauler; Guiscard Seebohm; Frank Lehmann-Horn; Holger Lerche; Karin Jurkat-Rott
Neutralization of a negative charge in the S1-S2 region of the KV7.2 (KCNQ2) channel affects voltage-dependent activation in neonatal epilepsy.
The Journal of physiology 2008;586(2):545-55.
2008: Thomas Meyer; Karin Jurkat-Rott; Angela Huebner; Frank Lehmann-Horn; Peter Linke; Frank K H van Landeghem; Jörn S Dullinger; Simone Spuler
Progressive muscle atrophy with hypokalemic periodic paralysis and calcium channel mutation.
Muscle & nerve 2008;37(1):120-4.
2007: Thomas V Wuttke; Karin Jurkat-Rott; W Paulus; M Garncarek; Frank Lehmann-Horn; Holger Lerche
Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations.
Neurology 2007;69(22):2045-53.
2007: Karin Jurkat-Rott; Frank Lehmann-Horn
Do hyperpolarization-induced proton currents contribute to the pathogenesis of hypokalemic periodic paralysis, a voltage sensor channelopathy?
The Journal of general physiology 2007;130(1):1-5.
2007: Alexey Kuzmenkin; Chao Hang; Elza Kuzmenkina; Karin Jurkat-Rott
Gating of the HypoPP-1 mutations: II. Effects of a calcium-channel agonist BayK 8644.
Pflügers Archiv : European journal of physiology 2007;454(4):605-14.
2007: Alexey Kuzmenkin; Chao Hang; Elza Kuzmenkina; Karin Jurkat-Rott
Gating of the HypoPP-1 mutations: I. Mutant-specific effects and cooperativity.
Pflügers Archiv : European journal of physiology 2007;454(3):495-505.
2007: Karin Jurkat-Rott; Frank Lehmann-Horn
Genotype-phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysis.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics 2007;4(2):216-24.
2007: Frank Lehmann-Horn; Karin Jurkat-Rott
Myotonic disorders.
Handbook of clinical neurology 2007;86():61-76.
2006: Karin Jurkat-Rott; Frank Lehmann-Horn
Paroxysmal muscle weakness: the familial periodic paralyses.
Journal of neurology 2006;253(11):1391-8.
2006: Marc-André Weber; Sonia Nielles-Vallespin; Marco Essig; Karin Jurkat-Rott; Hans-Ulrich Kauczor; Frank Lehmann-Horn
Muscle Na+ channelopathies: MRI detects intracellular 23Na accumulation during episodic weakness.
Neurology 2006;67(7):1151-8.
2006: Marc-André Weber; Sonia Nielles-Vallespin; Hagen B Huttner; Johannes C Wöhrle; Karin Jurkat-Rott; Frank Lehmann-Horn; Lothar R Schad; Hans-Ulrich Kauczor; Marco Essig; Hans-Michael Meinck
Evaluation of patients with paramyotonia at 23Na MR imaging during cold-induced weakness.
Radiology 2006;240(2):489-500.
2006: Karin Jurkat-Rott; Michael Fauler; Frank Lehmann-Horn
Ion channels and ion transporters of the transverse tubular system of skeletal muscle.
Journal of muscle research and cell motility 2006;27(5-7):275-90.
2005: Nicholas P Davies; Paola Imbrici; Doreen Fialho; Colin Herd; L G Bilsland; A Weber; R Mueller; D Hilton-Jones; J Ealing; B R Boothman; Paola Giunti; L M Parsons; M Thomas; A Y Manzur; Karin Jurkat-Rott; Frank Lehmann-Horn; Patrick F Chinnery; M Rose; Dimitri M Kullmann; Michael G Hanna
Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation.
Neurology 2005;65(7):1083-9.
2005: Unda Todt; Martin Dichgans; Karin Jurkat-Rott; Axel Heinze; Giovanni Zifarelli; Jan B Koenderink; Ingrid Goebel; Vera Zumbroich; Anne Stiller; Alfredo Ramirez; Thomas Friedrich; Hartmut Göbel; Christian Kubisch
Rare missense variants in ATP1A2 in families with clustering of common forms of migraine.
Human mutation 2005;26(4):315-21.
2005: Werner Klingler; James J A Heffron; Karin Jurkat-Rott; Grainne O'sullivan; Andreas Alt; Friedrich Schlesinger; Johannes Bufler; Frank Lehmann-Horn
3,4-Methylenedioxymethamphetamine (ecstasy) activates skeletal muscle nicotinic acetylcholine receptors.
The Journal of pharmacology and experimental therapeutics 2005;314(3):1267-73.
2005: Karin Jurkat-Rott; Frank Lehmann-Horn
Muscle channelopathies and critical points in functional and genetic studies.
The Journal of clinical investigation 2005;115(8):2000-9.
2005: Jens P Dreier; Karin Jurkat-Rott; Gabor C Petzold; Oren Tomkins; Randolf Klingebiel; Ute A Kopp; Frank Lehmann-Horn; Alon Friedman; Martin Dichgans
Opening of the blood-brain barrier preceding cortical edema in a severe attack of FHM type II.
Neurology 2005;64(12):2145-7.
2005: Bahram Mohammadi; Karin Jurkat-Rott; Alexi K. Alekov; Reinhard Dengler; Johannes Bufler; Frank Lehmann-Horn
Preferred mexiletine block of human sodium channels with IVS4 mutations and its pH-dependence.
Pharmacogenetics and genomics 2005;15(4):235-44.
2005: Werner Klingler; Frank Lehmann-Horn; Karin Jurkat-Rott
Complications of anaesthesia in neuromuscular disorders.
Neuromuscular disorders : NMD 2005;15(3):195-206.
2005: Holger Lerche; Yvonne G Weber; Karin Jurkat-Rott; Frank Lehmann-Horn
Ion channel defects in idiopathic epilepsies.
Current pharmaceutical design 2005;11(21):2737-52.
2004: Maria Spadaro; Simona Ursu; Frank Lehmann-Horn; Liana Veneziano; Veneziano Liana; Giovanni Antonini; Antonini Giovanni; Paola Giunti; Giunti Paola; Marina Frontali; Karin Jurkat-Rott
A G301R Na+/K+ -ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs.
Neurogenetics 2004;5(3):177-85.
2004: Karin Jurkat-Rott; Frank Lehmann-Horn
The patch clamp technique in ion channel research.
Current pharmaceutical biotechnology 2004;5(4):387-95.
2004: Audrius Meskauskas; Frank Lehmann-Horn; Karin Jurkat-Rott
Sight: automating genomic data-mining without programming skills.
Bioinformatics (Oxford, England) 2004;20(11):1718-20.
2004: Yvonne G Weber; Andrea Berger; Nerses Bebek; Sabine Maier; Skevos Karafyllakes; Nancy Meyer; Yukio Fukuyama; Anne Halbach; Christiane Hikel; Gerhard Kurlemann; Bernd A Neubauer; Makiko Osawa; Burkhard Püst; Dietz Rating; Kayoko Saito; Ulrich Stephani; Ulrike Tauer; Frank Lehmann-Horn; Karin Jurkat-Rott; Holger Lerche
Benign familial infantile convulsions: linkage to chromosome 16p12-q12 in 14 families.
Epilepsia 2004;45(6):601-9.
2004: Karin Jurkat-Rott; Tobias Freilinger; Jens P Dreier; Jürgen Herzog; H Göbel; Gabor C Petzold; P Montagna; Thomas Gasser; Frank Lehmann-Horn; Martin Dichgans
Variability of familial hemiplegic migraine with novel A1A2 Na+/K+-ATPase variants.
Neurology 2004;62(10):1857-61.
2004: Karin Jurkat-Rott; Frank Lehmann-Horn
Electrophysiology and molecular pharmacology of muscle channelopathies.
Revue neurologique 2004;160(5 Pt 2):S43-8.
2004: Karin Jurkat-Rott; Frank Lehmann-Horn
Reviewing in science requires quality criteria and professional reviewers.
European journal of cell biology 2004;83(3):93-5.
2004: Karin Jurkat-Rott; Frank Lehmann-Horn
Periodic paralysis mutation MiRP2-R83H in controls: Interpretations and general recommendation.
Neurology 2004;62(6):1012-5.
2004: Karin Jurkat-Rott; Frank Lehmann-Horn
The impact of splice isoforms on voltage-gated calcium channel alpha1 subunits.
The Journal of physiology 2004;554(Pt 3):609-19.
2003: Linda L Bachinski; Bjarne Udd; Giovanni Meola; Valeria Sansone; guillaume bassez; Bruno Eymard; Charles A Thornton; Richard T Moxley; Peter S Harper; Mark T Rogers; Karin Jurkat-Rott; Frank Lehmann-Horn; Thomas Wieser; Josep Gamez; Carmen Navarro; Armand Bottani; Andre Kohler; Mark D Shriver; Riitta Sallinen; Maija Wessman; Shanxiang Zhang; Fred A Wright; Ralf Krahe
Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect.
American journal of human genetics 2003;73(4):835-48.
2003: Alexey Kuzmenkin; Karin Jurkat-Rott; Frank Lehmann-Horn; Nenad Mitrovic
Impaired slow inactivation due to a polymorphism and substitutions of Ser-906 in the II-III loop of the human Nav1.4 channel.
Pflügers Archiv : European journal of physiology 2003;447(1):71-7.
2003: Jan Kassubek; Freimut D Juengling; Stefanie Hoffmann; Angela Rosenbohm; Anja Kurt; Karin Jurkat-Rott; Peter Steinbach; Michael Wolf; Albert C Ludolph; Frank Lehmann-Horn; Holger Lerche; Yvonne G Weber
Quantification of brain atrophy in patients with myotonic dystrophy and proximal myotonic myopathy: a controlled 3-dimensional magnetic resonance imaging study.
Neuroscience letters 2003;348(2):73-6.
2003: Peter C Thuss-Patience; Uwe Peters; Karin Jurkat-Rott; Daniel Pink; Albrecht Kretzschmar; Bernd Dörken; Peter Reichardt
Acute hypokalemic tetraparesis induced by intravenous methotrexate.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2003;21(9):1896-7.
2003: Rachel L Robinson; Martin Anetseder; Virginia Brancadoro; C van Broekhoven; Antonella Carsana; K Censier; Giuliana Fortunato; Thierry Girard; Luc Heytens; Philip M Hopkins; Karin Jurkat-Rott; W Klinger; Geneviève Kozak-Ribbens; R Krivosic; Nicole Monnier; Yves Nivoche; Derk Olthoff; Henrik Rueffert; Vincenzo Sorrentino; Vincenzo Tegazzin; CR Mueller
Recent advances in the diagnosis of malignant hyperthermia susceptibility: how confident can we be of genetic testing?
European journal of human genetics : EJHG 2003;11(4):342-8.
2003: Rachel Robinson; Philip Hopkins; Antonella Carsana; Hermann Gilly; Jane Halsall; Luc Heytens; Gunilla Islander; Karin Jurkat-Rott; Clemens Müller; Marie-Anne Shaw
Several interacting genes influence the malignant hyperthermia phenotype.
Human genetics 2003;112(2):217-8.
2002: Karin Jurkat-Rott; Holger Lerche; Frank Lehmann-Horn
Skeletal muscle channelopathies.
Journal of neurology 2002;249(11):1493-502.
2002: Alexey Kuzmenkin; Vanesa Muncan; Karin Jurkat-Rott; Chao Hang; Holger Lerche; Frank Lehmann-Horn; Nenad Mitrovic
Enhanced inactivation and pH sensitivity of Na(+) channel mutations causing hypokalaemic periodic paralysis type II.
Brain : a journal of neurology 2002;125(Pt 4):835-43.
2002: Christoph Baur; R Schlecht; Karin Jurkat-Rott; Michael Georgieff; Frank Lehmann-Horn
[Anesthesia in neuromuscular disorders. Part 1: introduction].
Anästhesiologie, Intensivmedizin, Notfallmedizin, Schmerztherapie : AINS 2002;37(2):77-83.
2002: Frank Lehmann-Horn; Karin Jurkat-Rott; Reinhardt Rüdel
Periodic paralysis: understanding channelopathies.
Current neurology and neuroscience reports 2002;2(1):61-9.
2001: Holger Lerche; Yvonne G Weber; H Baier; Karin Jurkat-Rott; O Kraus de Camargo; Albert C Ludolph; Harald Bode; Frank Lehmann-Horn
Generalized epilepsy with febrile seizures plus: further heterogeneity in a large family.
Neurology 2001;57(7):1191-8.
2001: Damien Sternberg; Thierry Maisonobe; Karin Jurkat-Rott; Sophie Nicole; E Launay; D Chauveau; Nacira Tabti; Frank Lehmann-Horn; Bernard Hainque; Bertrand Fontaine
Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A.
Brain : a journal of neurology 2001;124(Pt 6):1091-9.
2001: Holger Lerche; Karin Jurkat-Rott; F Lehmann-Horn
Ion channels and epilepsy.
American journal of medical genetics 2001;106(2):146-59.
2000: Christoph Baur; Werner Klingler; Karin Jurkat-Rott; Gebhard Froeba; E Schoch; Thomas Marx; Michael Georgieff; Frank Lehmann-Horn
Xenon does not induce contracture in human malignant hyperthermia muscle.
British journal of anaesthesia 2000;85(5):712-6.
2000: Karin Jurkat-Rott; Nenad Mitrovic; Chao Hang; A Kouzmekine; P Iaizzo; Jürgen Herzog; Holger Lerche; Sophie Nicole; J Vale-Santos; D Chauveau; Bertrand Fontaine; Frank Lehmann-Horn
Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current.
Proceedings of the National Academy of Sciences of the United States of America 2000;97(17):9549-54.
2000: Christoph Baur; L Bellon; P Felleiter; Marko Fiege; R Fricker; K Glahn; James J A Heffron; A Herrmann-Frank; Karin Jurkat-Rott; Werner Klingler; M Lehane; H Ording; Vincenzo Tegazzin; Frank Wappler; Michael Georgieff; Frank Lehmann-Horn
A multicenter study of 4-chloro-m-cresol for diagnosing malignant hyperthermia susceptibility.
Anesthesia and analgesia 2000;90(1):200-5.
2000: Karin Jurkat-Rott; T McCarthy; Frank Lehmann-Horn
Genetics and pathogenesis of malignant hyperthermia.
Muscle & nerve 2000;23(1):4-17.
1999: Frank Lehmann-Horn; Karin Jurkat-Rott
Voltage-gated ion channels and hereditary disease.
Physiological reviews 1999;79(4):1317-72.
1999: A Brandt; L Schleithoff; Karin Jurkat-Rott; Werner Klingler; Christoph Baur; Frank Lehmann-Horn
Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test.
Human molecular genetics 1999;8(11):2055-62.
1999: Karin Jurkat-Rott; Holger Lerche; Nenad Mitrovic; Frank Lehmann-Horn
Teaching course: ion channelopathies in neurology.
Journal of neurology 1999;246(9):758-63.
1999: Holger Lerche; C Biervert; Alexi K. Alekov; L Schleithoff; M Lindner; W Klinger; F Bretschneider; Nenad Mitrovic; Karin Jurkat-Rott; Harald Bode; Frank Lehmann-Horn; Ortrud K Steinlein
A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions.
Annals of neurology 1999;46(3):305-12.
1998: Karin Jurkat-Rott; U Uetz; U Pika-Hartlaub; J Powell; B Fontaine; Werner Melzer; Frank Lehmann-Horn
Calcium currents and transients of native and heterologously expressed mutant skeletal muscle DHP receptor alpha1 subunits (R528H)
FEBS letters 1998;423(2):198-204.
1995: I Sipos; Karin Jurkat-Rott; Csaba Harasztosi; Bertrand Fontaine; L Kovacs; Werner Melzer; Frank Lehmann-Horn
Skeletal muscle DHP receptor mutations alter calcium currents in human hypokalaemic periodic paralysis myotubes.
The Journal of physiology 1995;483 ( Pt 2)():299-306.
1995: Alexis Elbaz; J Vale-Santos; Karin Jurkat-Rott; P Lapie; Roel A Ophoff; B Bady; Thera P Links; C Piussan; A Vila; N Monnier
Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families.
American journal of human genetics 1995;56(2):374-80.
1995: Frank Lehmann-Horn; I Sipos; Karin Jurkat-Rott; R Heine; Heinrich Brinkmeier; Bertrand Fontaine; L Kovacs; Werner Melzer
Altered calcium currents in human hypokalemic periodic paralysis myotubes expressing mutant L-type calcium channels.
Society of General Physiologists series 1995;50():101-13.
1994: Emmanuelle Plassart-Schiess; Alexis Elbaz; J V Santos; J Reboul; P Lapie; D Chauveau; Karin Jurkat-Rott; J Guimaraes; J M Saudubray; Jean Weissenbach
Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP).
Human genetics 1994;94(5):551-6.
1994: Karin Jurkat-Rott; Frank Lehmann-Horn; Alexis Elbaz; R Heine; Ronald G Gregg; K Hogan; Patricia A Powers; P Lapie; J E Vale-Santos; Jean Weissenbach
A calcium channel mutation causing hypokalemic periodic paralysis.
Human molecular genetics 1994;3(8):1415-9.
1994: Bertrand Fontaine; J Vale-Santos; Karin Jurkat-Rott; J Reboul; Emmanuelle Plassart-Schiess; C S Rime; Alexis Elbaz; R Heine; J Guimarães; Jean Weissenbach
Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families.
Nature genetics 1994;6(3):267-72.