Pediatric Neurology
Volume 41, Issue 6 , Pages 464-466 , December 2009

Novel de novo Mutation in the KCNJ2 Gene in a Patient With Andersen-Tawil Syndrome

  • June-Bum Kim, MD, PhD

      Affiliations

    • Department of Pediatrics, College of Medicine, Konyang University, Daejun, South Korea
    • Corresponding Author InformationCommunications should be addressed to: Dr. Kim; Department of Pediatrics; College of Medicine; Konyang University; 685 Gasoowon-dong; Su-goo, Daejun; Choongnam 302-718, South Korea.
    • ,
  • Ki-Wha Chung, PhD

      Affiliations

    • Department of Biological Science, Kongju National University, Choongnam, South Korea

Received 25 February 2009 ,Accepted 13 July 2009.

References 

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  2. Sansone V, Griggs RC, Meola G, et al. Andersen's syndrome: a distinct periodic paralysis. Ann Neurol. 1997;42:305–312
  3. Plaster NM, Tawil R, Tristani-Firouzi M, et al. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell. 2001;105:511–519
  4. Derst C, Karschin C, Wischmeyer E, et al. Genetic and functional linkage of Kir5.1 and Kir2.1 channel subunits. FEBS Lett. 2001;491:305–311
  5. Raab-Graham KF, Radeke CM, Vandenberg CA. Molecular cloning and expression of a human heart inward rectifier potassium channel. Neuroreport. 1994;5:2501–2505
  6. Davies NP, Imbrici P, Fialho D, et al. Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation. Neurology. 2005;65:1083–1089
  7. Donaldson MR, Jensen JL, Tristani-Firouzi M, et al. PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome. Neurology. 2003;60:1811–1816
  8. Smith AH, Fish FA, Kannankeril PJ. Andersen-Tawil Syndrome. Indian Pacing Electrophysiol J. 2006;6:32–43
  9. Heginbotham L, Lu Z, Abramson T, MacKinnon R. Mutations in the K+ channel signature sequence. J Biophys. 1994;66:1061–1067
  10. Junker J, Haverkamp W, Schulze-Bahr E, Eckardt L, Paulus W, Kiefer R. Amiodarone and acetazolamide for the treatment of genetically confirmed severe Andersen syndrome. Neurology. 2002;59:466
  11. Griggs RC, Engel WK, Resnick JS. Acetazolamide treatment of hypokalemic periodic paralysis: prevention of attacks and improvement of persistent weakness. Ann Intern Med. 1970;73:39–48
  12. Sternberg D, Maisonobe T, Jurkat-Rott K, et al. Hypokalemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A. Brain. 2001;124:1091–1099
  13. Bendahhou S, Cummins TR, Griggs RC, Fu YH, Ptacek LJ. Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis. Ann Neurol. 2001;50:417–420
  14. Poskanzer DC, Kerr DN. Periodic paralysis with response to spironolactone. Lancet. 1961;2(7201):511–513
  15. Torres CF, Griggs RC, Moxley RT, Bender AN. Hypokalemic periodic paralysis exacerbated by acetazolamide. Neurology. 1981;31:1423–1428

PII: S0887-8994(09)00360-9

doi: 10.1016/j.pediatrneurol.2009.07.010

Pediatric Neurology
Volume 41, Issue 6 , Pages 464-466 , December 2009

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