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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
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Disease relevance of Myokymia


High impact information on Myokymia

  • Mutation analysis of the KCNA1 coding region in these families identified four different missense point mutations present in the heterozygous state, indicating that EA/myokymia can result from mutations in this gene [6].
  • One type of EA is characterized by brief episodes of ataxia with myokymia (rippling of muscles) evident between attacks [6].
  • Linkage studies in four such families suggested localization of an EA/myokymia gene near the voltage gated K+ channel gene, KCNA1 (Kv1.1), on chromosome 12p [6].
  • Myokymia, unusual side-effect of clofibrate [7].
  • We propose that a difference in firing patterns between motoneurons and central neurons, combined with the drastically slowed voltage activation of the R207W mutant, explains why this particular KCNQ2 mutant causes myokymia in addition to BFNC [8].

Chemical compound and disease context of Myokymia


Biological context of Myokymia


Gene context of Myokymia

  • The diminished activity of mutant KCNQ2 channels accounts for neonatal epilepsy and myokymia; the cellular locus of these effects may be axonal initial segments and nodes [16].
  • Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel [8].
  • Similarly, the clinical spectrum associated with potassium channel, KQT-like mutations was extended to include the channelopathy myokymia and neonatal epilepsy [17].
  • Morvan's fibrillary chorea: a paraneoplastic manifestation of thymoma [18].
  • Depressor septi nasi myokymia [19].

Analytical, diagnostic and therapeutic context of Myokymia


  1. Familial periodic cerebellar ataxia without myokymia maps to a 19-cM region on 19p13. Teh, B.T., Silburn, P., Lindblad, K., Betz, R., Boyle, R., Schalling, M., Larsson, C. Am. J. Hum. Genet. (1995) [Pubmed]
  2. Identification of two new KCNA1 mutations in episodic ataxia/myokymia families. Browne, D.L., Brunt, E.R., Griggs, R.C., Nutt, J.G., Gancher, S.T., Smith, E.A., Litt, M. Hum. Mol. Genet. (1995) [Pubmed]
  3. Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families. Cancel, G., Dürr, A., Didierjean, O., Imbert, G., Bürk, K., Lezin, A., Belal, S., Benomar, A., Abada-Bendib, M., Vial, C., Guimarães, J., Chneiweiss, H., Stevanin, G., Yvert, G., Abbas, N., Saudou, F., Lebre, A.S., Yahyaoui, M., Hentati, F., Vernant, J.C., Klockgether, T., Mandel, J.L., Agid, Y., Brice, A. Hum. Mol. Genet. (1997) [Pubmed]
  4. Phenotypic variants of autoimmune peripheral nerve hyperexcitability. Hart, I.K., Maddison, P., Newsom-Davis, J., Vincent, A., Mills, K.R. Brain (2002) [Pubmed]
  5. Neuronal type of Charcot-Marie-Tooth disease with a syndrome of continuous motor unit activity. Vasilescu, C., Alexianu, M., Dan, A. J. Neurol. Sci. (1984) [Pubmed]
  6. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Browne, D.L., Gancher, S.T., Nutt, J.G., Brunt, E.R., Smith, E.A., Kramer, P., Litt, M. Nat. Genet. (1994) [Pubmed]
  7. Myokymia, unusual side-effect of clofibrate. Teräväinen, H., Mäkitie, J. Lancet (1976) [Pubmed]
  8. Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel. Dedek, K., Kunath, B., Kananura, C., Reuner, U., Jentsch, T.J., Steinlein, O.K. Proc. Natl. Acad. Sci. U.S.A. (2001) [Pubmed]
  9. Neurologic complications induced by gold treatment. Schlumpf, U., Meyer, M., Ulrich, J., Friede, R.L. Arthritis Rheum. (1983) [Pubmed]
  10. Calcium and myokymia of brainstem origin. Gutmann, L., Brick, J.F., Riggs, J.E. Neurology (1986) [Pubmed]
  11. Hereditary myokymia and paroxysmal ataxia linked to chromosome 12 is responsive to acetazolamide. Lubbers, W.J., Brunt, E.R., Scheffer, H., Litt, M., Stulp, R., Browne, D.L., van Weerden, T.W. J. Neurol. Neurosurg. Psychiatr. (1995) [Pubmed]
  12. Functional changes and adverse reactions after successful treatment of hereditary myokymia: a case report. Kinnett, D., Keebler, P. Archives of physical medicine and rehabilitation. (2001) [Pubmed]
  13. Reversible F-wave hyperexcitability associated with antibodies to potassium channels in Isaacs' syndrome. Tanosaki, M., Baba, M., Miura, H., Matsunaga, M., Arimura, K. Eur. J. Neurol. (1999) [Pubmed]
  14. Deletion of the K(V)1.1 potassium channel causes epilepsy in mice. Smart, S.L., Lopantsev, V., Zhang, C.L., Robbins, C.A., Wang, H., Chiu, S.Y., Schwartzkroin, P.A., Messing, A., Tempel, B.L. Neuron (1998) [Pubmed]
  15. Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability. Eunson, L.H., Rea, R., Zuberi, S.M., Youroukos, S., Panayiotopoulos, C.P., Liguori, R., Avoni, P., McWilliam, R.C., Stephenson, J.B., Hanna, M.G., Kullmann, D.M., Spauschus, A. Ann. Neurol. (2000) [Pubmed]
  16. KCNQ2 is a nodal K+ channel. Devaux, J.J., Kleopa, K.A., Cooper, E.C., Scherer, S.S. J. Neurosci. (2004) [Pubmed]
  17. Channelopathies as a genetic cause of epilepsy. Mulley, J.C., Scheffer, I.E., Petrou, S., Berkovic, S.F. Curr. Opin. Neurol. (2003) [Pubmed]
  18. Morvan's fibrillary chorea: a paraneoplastic manifestation of thymoma. Lee, E.K., Maselli, R.A., Ellis, W.G., Agius, M.A. J. Neurol. Neurosurg. Psychiatr. (1998) [Pubmed]
  19. Depressor septi nasi myokymia. Herskovitz, S., Bieri, P.L., Berger, A.R. Muscle Nerve (1994) [Pubmed]
  20. Calcium effect on generation and amplification of myokymic discharges. Brick, J.F., Gutmann, L., McComas, C.F. Neurology (1982) [Pubmed]
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