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Muscle weakness, palpitations and a small chin: the Andersen–Tawil syndrome
  1. S Rajakulendran1,
  2. S V Tan2,
  3. M G Hanna3
  1. 1Research Fellow, Institute of Neurology, University College of London, London, UK
  2. 2Consultant Neurophysiologist, National Hospital for Neurology and Neurosurgery, London, UK
  3. 3Consultant Neurologist, National Hospital for Neurology and Neurosurgery and Director of the MRC Centre for Neuromuscular Diseases, London, UK
  1. Correspondence to Professor M G Hanna, MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, Queen Square and UCL Institute of Neurology, London WC1N 3BG, UK; mhanna{at}ion.ucl.ac.uk

Abstract

‘Ion channelopathies’ have emerged in the past decade as a new cause of several neurological diseases. These Mendelian disorders are caused by mutations in genes that encode ion channel subunits and are often characterised by paroxysmal attacks of brain or muscle dysfunction, interspersed with periods of clinical normality. Andersen–Tawil syndrome is one of the rarest and is characterised clinically by the triad of periodic paralysis, cardiac dysrhythmias and skeletal abnormalities. Mutations in a potassium channel gene, KCNJ2 which encodes the potassium channel, Kir2.1, underlie the disorder. Here, the authors describe a patient and review the clinical spectrum and genetic features of the disorder.

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Footnotes

  • Patient consent Obtained.

  • Competing interests None.

  • Provenance and peer review Not commissioned; not externally peer reviewed.

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