List of works - Karin Jurkat-Rott

7-T (35)Cl and (23)Na MR Imaging for Detection of Mutation-dependent Alterations in Muscular Edema and Fat Fraction with Sodium and Chloride Concentrations in Muscular Periodic Paralyses

scientific article published on 15 April 2016

A CaV1.1 Ca2+ channel splice variant with high conductance and voltage-sensitivity alters EC coupling in developing skeletal muscle

scientific article published on January 2009

A G301R Na+/K+ -ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs

scientific article

A gating model for wildtype and R1448H Nav1.4 channels in paramyotonia

scientific article published on May 2014

Complications of anaesthesia in neuromuscular disorders

scientific article

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

scientific article

Divalent cation-responsive myotonia and muscle paralysis in skeletal muscle sodium channelopathy

scientific article

Early-onset familial hemiplegic migraine due to a novel SCN1A mutation

scientific article published on 12 January 2016

Gating of the HypoPP-1 mutations: I. Mutant-specific effects and cooperativity

scientific article

Gating of the HypoPP-1 mutations: II. Effects of a calcium-channel agonist BayK 8644.

scientific article

Genotype-phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysis

scientific article

Hereditary Channelopathies in Neurology ⬇️

scientific article published on January 1, 2010

High prevalence of rare ryanodine receptor type 1 variants in patients suffering from aneurysmatic subarachnoid hemorrhage: A pilot study

scientific article

Hyperkalemic Periodic Paralysis and Permanent Weakness: 3-T MR Imaging Depicts Intracellular23Na Overload—Initial Results ⬇️

scientific article published on April 16, 2012

In vivo 35Cl MR imaging in humans: a feasibility study

scientific article

Ion channel defects in idiopathic epilepsies

scientific article

Ion channels and ion transporters of the transverse tubular system of skeletal muscle

scientific article published on 24 August 2006

K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaks

scholarly article

Muscle channelopathies and critical points in functional and genetic studies

scientific article

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

scientific article published on 2 November 2014

NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery

scientific article published on 18 February 2014

Paroxysmal muscle weakness: the familial periodic paralyses

scientific article published on 30 November 2006

Pathophysiological Role of Omega Pore Current in Channelopathies ⬇️

scientific article published on June 11, 2012

Periodic paralysis mutation MiRP2-R83H in controls: Interpretations and general recommendation

scientific article (publication date: 23 March 2004)

Periodic paralysis: understanding channelopathies

scientific article

Possible Effect of Corticoids on Hemiplegic Attacks in Severe Hemiplegic Migraine ⬇️

scientific article published on July 4, 2013

Rare KCNJ18 variants do not explain hypokalaemic periodic paralysis in 263 unrelated patients

scientific article

Rare missense variants in ATP1A2 in families with clustering of common forms of migraine

scientific article

SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy

scientific article

Sight: automating genomic data-mining without programming skills

scientific article

Skeletal muscle channelopathies

scientific article

Sodium channelopathies of skeletal muscle result from gain or loss of function

scientific article published on 17 March 2010

The impact of permanent muscle weakness on quality of life in periodic paralysis: a survey of 66 patients ⬇️

scientific article published on October 1, 2012

The impact of splice isoforms on voltage-gated calcium channel alpha1 subunits

scientific article published on 28 November 2003

Transient compartment-like syndrome and normokalaemic periodic paralysis due to a Ca(v)1.1 mutation

scientific article

List of works by Karin Jurkat-Rott

7-T (35)Cl and (23)Na MR Imaging for Detection of Mutation-dependent Alterations in Muscular Edema and Fat Fraction with Sodium and Chloride Concentrations in Muscular Periodic Paralyses

A CaV1.1 Ca2+ channel splice variant with high conductance and voltage-sensitivity alters EC coupling in developing skeletal muscle

A G301R Na+/K+ -ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs

A gating model for wildtype and R1448H Nav1.4 channels in paramyotonia

Complications of anaesthesia in neuromuscular disorders

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

Divalent cation-responsive myotonia and muscle paralysis in skeletal muscle sodium channelopathy

Early-onset familial hemiplegic migraine due to a novel SCN1A mutation

Gating of the HypoPP-1 mutations: I. Mutant-specific effects and cooperativity

Gating of the HypoPP-1 mutations: II. Effects of a calcium-channel agonist BayK 8644.

Genotype-phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysis

Hereditary Channelopathies in Neurology ⬇️

High prevalence of rare ryanodine receptor type 1 variants in patients suffering from aneurysmatic subarachnoid hemorrhage: A pilot study

Hyperkalemic Periodic Paralysis and Permanent Weakness: 3-T MR Imaging Depicts Intracellular23Na Overload—Initial Results ⬇️

In vivo 35Cl MR imaging in humans: a feasibility study

Ion channel defects in idiopathic epilepsies

Ion channels and ion transporters of the transverse tubular system of skeletal muscle

K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaks

Muscle channelopathies and critical points in functional and genetic studies

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery

Paroxysmal muscle weakness: the familial periodic paralyses

Pathophysiological Role of Omega Pore Current in Channelopathies ⬇️

Periodic paralysis mutation MiRP2-R83H in controls: Interpretations and general recommendation

Periodic paralysis: understanding channelopathies

Possible Effect of Corticoids on Hemiplegic Attacks in Severe Hemiplegic Migraine ⬇️

Rare KCNJ18 variants do not explain hypokalaemic periodic paralysis in 263 unrelated patients

Rare missense variants in ATP1A2 in families with clustering of common forms of migraine

SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy

Sight: automating genomic data-mining without programming skills

Skeletal muscle channelopathies

Sodium channelopathies of skeletal muscle result from gain or loss of function

The impact of permanent muscle weakness on quality of life in periodic paralysis: a survey of 66 patients ⬇️

The impact of splice isoforms on voltage-gated calcium channel alpha1 subunits

Transient compartment-like syndrome and normokalaemic periodic paralysis due to a Ca(v)1.1 mutation