Amiodarone and acetazolamide for the treatment of genetically confirmed severe Andersen syndrome

Junker, Judith; Haverkamp, Wilhelm; Schulze‐Bahr, Eric; Eckardt, Lars; Paulus, Walter J.; Kiefer, Ralph-Thomas

doi:10.1212/wnl.59.3.466

Cited by 59 publications

(19 citation statements)

References 5 publications

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“…Aborted sudden deaths have also been reported in the past (Junker, et al, 2002). It is much too early to conclude that arrhythmias in ATS are, for the most part, benign.…”

Section: Discussionmentioning

confidence: 99%

Genotype-phenotype correlations ofKCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome

et al. 2007

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Andersen-Tawil syndrome (ATS) is a rare inherited disorder characterized by periodic paralysis, mild dysmorphic features, and QT or QU prolongation with ventricular arrhythmias in electrocardiograms (ECGs Functional assays for the two novel KCNJ2 mutations (c. 200G>A (p. R67Q) and c. 436G>A (p. G146S)) displayed no functional inward rectifying currents in a heterologous expression system and showed strong dominant negative effects when co-expressed with wild-type KCNJ2 channels (91% and 84% reduction at -50 mV respectively compared to wild-type alone). Immunocytochemistry and confocal imaging revealed normal trafficking for mutant channels. In our study, all of the clinically diagnosed ATS patients had KCNJ2 mutations and showed a high penetrance with regard to the typical cardiac phenotypes: predominant U wave and ventricular arrhythmias, typically bidirectional VT.

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“…Aborted sudden deaths have also been reported in the past (Junker, et al, 2002). It is much too early to conclude that arrhythmias in ATS are, for the most part, benign.…”

Section: Discussionmentioning

confidence: 99%

Genotype-phenotype correlations ofKCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome

et al. 2007

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“…However all of these options rely on case report or small series reporting of efficacy 12 . The majority of published data relates to the use of carbonic anhydrase inhibitors, acetazolamide and dichlorphenamide that have been used as prophylactic agents in all the periodic paralyses [13][14][15] although their exact mode of action is incompletely understood 16 . In 2002 Merck ceased production of dichlorphenamide and it has been unavailable worldwide since 2011.…”

Section: What Are the Unmet Needs Of Currently Available Therapies?mentioning

confidence: 99%

Dichlorphenamide efficacy in the primary periodic paralyses

Matthews

Hanna

2017

Expert Opinion on Orphan Drugs

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“…Treatment of ATS patients requires closely co-ordinated expertise between a neuromuscular specialist and a cardiologist. However, it has been observed that drugs may have beneficial effect on one tissue while detrimental on other, but amiodarone and acetazolamide are effective in many cases (Junker et al 2002).…”

Section: Andersen Tawil Syndrome (Ats)mentioning

confidence: 99%

Mutational Consequences of Aberrant Ion Channels in Neurological Disorders

2014

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Neurological channelopathies are attributed to aberrant ion channels affecting CNS, PNS, cardiac, and skeletal muscles. To maintain the homeostasis of excitable tissues, functional ion channels are necessary to rely electrical signals, whereas any malfunctioning serves as an intrinsic factor to develop neurological channelopathies. Molecular basis of these disease is studied based on genetic and biophysical approaches, e.g., loci positional cloning, whereas pathogenesis and bio-behavioral analysis revealed the dependency on genetic mutations and inter-current triggering factors. Although electrophysiological studies revealed the possible mechanisms of diseases, analytical study of ion channels remained unsettled and therefore underlying mechanism in channelopathies is necessary for better clinical application. Herein, we demonstrated (i) structural and functional role of various ion channels (Na(+), K(+), Ca(2+),Cl(-)), (ii) pathophysiology involved in the onset of their associated channelopathies, and (iii) comparative sequence and phylogenetic analysis of diversified sodium, potassium, calcium, and chloride ion channel subtypes.

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Amiodarone and acetazolamide for the treatment of genetically confirmed severe Andersen syndrome

Cited by 59 publications

References 5 publications

Genotype-phenotype correlations ofKCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome

Genotype-phenotype correlations ofKCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome

Dichlorphenamide efficacy in the primary periodic paralyses

Mutational Consequences of Aberrant Ion Channels in Neurological Disorders

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