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MeSH Review


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Disease relevance of Myoclonus


Psychiatry related information on Myoclonus


High impact information on Myoclonus


Chemical compound and disease context of Myoclonus


Biological context of Myoclonus


Anatomical context of Myoclonus


Gene context of Myoclonus

  • Myoclonic jerking and seizures were prominent in the PPT1 mice [32].
  • Ectopic white matter neurons, a developmental abnormality that may be caused by the PSEN1 S169L mutation in a case of familial AD with myoclonus and seizures [33].
  • The previously unrecognised association of myoclonus in two patients with LHON with the 11778/ND4 pathogenic mutation is described [34].
  • Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutation [35].
  • Seizures and myoclonus associated with antidepressant treatment: assessment of potential risk factors, including CYP2D6 and CYP2C19 polymorphisms, and treatment with CYP2D6 inhibitors [36].

Analytical, diagnostic and therapeutic context of Myoclonus


  1. Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1. Lafrenière, R.G., Rochefort, D.L., Chrétien, N., Rommens, J.M., Cochius, J.I., Kälviäinen, R., Nousiainen, U., Patry, G., Farrell, K., Söderfeldt, B., Federico, A., Hale, B.R., Cossio, O.H., Sørensen, T., Pouliot, M.A., Kmiec, T., Uldall, P., Janszky, J., Pranzatelli, M.R., Andermann, F., Andermann, E., Rouleau, G.A. Nat. Genet. (1997) [Pubmed]
  2. Neurologic complications in children with enterovirus 71 infection. Huang, C.C., Liu, C.C., Chang, Y.C., Chen, C.Y., Wang, S.T., Yeh, T.F. N. Engl. J. Med. (1999) [Pubmed]
  3. A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Goto, Y., Nonaka, I., Horai, S. Nature (1990) [Pubmed]
  4. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. Barrett, T.G., Bundey, S.E., Macleod, A.F. Lancet (1995) [Pubmed]
  5. Molecular background of progressive myoclonus epilepsy. Lehesjoki, A.E. EMBO J. (2003) [Pubmed]
  6. Creutzfeldt-Jakob disease in France: II. Clinical characteristics of 124 consecutive verified cases during the decade 1968--1977. Brown, P., Cathala, F., Sadowsky, D., Gajdusek, D.C. Ann. Neurol. (1979) [Pubmed]
  7. Alzheimer's disease: choline acetyltransferase activity in brain tissue from clinical and pathological subgroups. Bird, T.D., Stranahan, S., Sumi, S.M., Raskind, M. Ann. Neurol. (1983) [Pubmed]
  8. Nonconvulsive status epilepticus associated with cephalosporins in patients with renal failure. Martínez-Rodríguez, J.E., Barriga, F.J., Santamaria, J., Iranzo, A., Pareja, J.A., Revilla, M., dela Rosa, C.R. Am. J. Med. (2001) [Pubmed]
  9. Lithium-aggravated nocturnal myoclonus and restless legs syndrome. Heiman, E.M., Christie, M. The American journal of psychiatry. (1986) [Pubmed]
  10. Studies of homogenous populations: CLN5 and CLN8. Ranta, S., Savukoski, M., Santavuori, P., Haltia, M. Adv. Genet. (2001) [Pubmed]
  11. Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Zimprich, A., Grabowski, M., Asmus, F., Naumann, M., Berg, D., Bertram, M., Scheidtmann, K., Kern, P., Winkelmann, J., Müller-Myhsok, B., Riedel, L., Bauer, M., Müller, T., Castro, M., Meitinger, T., Strom, T.M., Gasser, T. Nat. Genet. (2001) [Pubmed]
  12. Glycine receptor beta-subunit gene mutation in spastic mouse associated with LINE-1 element insertion. Kingsmore, S.F., Giros, B., Suh, D., Bieniarz, M., Caron, M.G., Seldin, M.F. Nat. Genet. (1994) [Pubmed]
  13. Development of a scleroderma-like illness during therapy with L-5-hydroxytryptophan and carbidopa. Sternberg, E.M., Van Woert, M.H., Young, S.N., Magnussen, I., Baker, H., Gauthier, S., Osterland, C.K. N. Engl. J. Med. (1980) [Pubmed]
  14. Post-anoxic action myoclonus: improvement with valproic acid. Fahn, S. N. Engl. J. Med. (1978) [Pubmed]
  15. Serotonin in essential myoclonus. Omenn, G.S., Bird, T.D., Johnsen, S.D. N. Engl. J. Med. (1977) [Pubmed]
  16. Myoclonus in the young after 5-hydroxytryptophan. Coleman, M. N. Engl. J. Med. (1977) [Pubmed]
  17. Long-term therapy of myoclonus and other neurologic disorders with L-5-hydroxytryptophan and carbidopa. Van Woert, M.H., Rosenbaum, D., Howieson, J., Bowers, M.B. N. Engl. J. Med. (1977) [Pubmed]
  18. Possible value of baclofen in myoclonus. Menon, M.K. JAMA (1980) [Pubmed]
  19. A rare case of prednimustine-induced myoclonus. Monnerat, C., Gander, M., Leyvraz, S. J. Natl. Cancer Inst. (1997) [Pubmed]
  20. GABA receptor agonists in intention myoclonus. Mondrup, K., Dupont, E., Braendgaard, H. Lancet (1983) [Pubmed]
  21. Whole-body tremulousness: isolated generalized polymyoclonus. McKeon, A., Pittock, S.J., Glass, G.A., Josephs, K.A., Bower, J.H., Lennon, V.A., Ahlskog, J.E. Arch. Neurol. (2007) [Pubmed]
  22. NIH conference. Alzheimer disease: clinical and biological heterogeneity. Friedland, R.P., Koss, E., Haxby, J.V., Grady, C.L., Luxenberg, J., Schapiro, M.B., Kaye, J. Ann. Intern. Med. (1988) [Pubmed]
  23. In vitro analysis of mutations causing myoclonus epilepsy with ragged-red fibers in the mitochondrial tRNA(Lys)gene: two genotypes produce similar phenotypes. Masucci, J.P., Davidson, M., Koga, Y., Schon, E.A., King, M.P. Mol. Cell. Biol. (1995) [Pubmed]
  24. Dentatorubral-pallidoluysian atrophy: clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat. Ikeuchi, T., Koide, R., Tanaka, H., Onodera, O., Igarashi, S., Takahashi, H., Kondo, R., Ishikawa, A., Tomoda, A., Miike, T. Ann. Neurol. (1995) [Pubmed]
  25. Evaluation of the role of the D2 dopamine receptor in myoclonus dystonia. Klein, C., Gurvich, N., Sena-Esteves, M., Bressman, S., Brin, M.F., Ebersole, B.J., Fink, S., Forsgren, L., Friedman, J., Grimes, D., Holmgren, G., Kyllerman, M., Lang, A.E., de Leon, D., Leung, J., Prioleau, C., Raymond, D., Sanner, G., Saunders-Pullman, R., Vieregge, P., Wahlström, J., Breakefield, X.O., Kramer, P.L., Ozelius, L.J., Sealfon, S.C. Ann. Neurol. (2000) [Pubmed]
  26. Juvenile neuroaxonal dystrophy: clinical, electrophysiological, and neuropathological features. Dorfman, L.J., Pedley, T.A., Tharp, B.R., Scheithauer, B.W. Ann. Neurol. (1978) [Pubmed]
  27. Deficit of spinal cord glycine/strychnine receptors in inherited myoclonus of Poll Hereford calves. Gundlach, A.L., Dodd, P.R., Grabara, C.S., Watson, W.E., Johnston, G.A., Harper, P.A., Dennis, J.A., Healy, P.J. Science (1988) [Pubmed]
  28. Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF). Boulet, L., Karpati, G., Shoubridge, E.A. Am. J. Hum. Genet. (1992) [Pubmed]
  29. Small Maf compound mutants display central nervous system neuronal degeneration, aberrant transcription, and Bach protein mislocalization coincident with myoclonus and abnormal startle response. Katsuoka, F., Motohashi, H., Tamagawa, Y., Kure, S., Igarashi, K., Engel, J.D., Yamamoto, M. Mol. Cell. Biol. (2003) [Pubmed]
  30. Neuropsychiatric disorders, myoclonus, and dystonia in calcification of basal ganglia pathways. Lauterbach, E.C., Spears, T.E., Prewett, M.J., Price, S.T., Jackson, J.G., Kirsh, A.D. Biol. Psychiatry (1994) [Pubmed]
  31. Fine structure of neurons of the hypertrophied human inferior olive. Barron, K.D., Dentinger, M.P., Koeppen, A.H. J. Neuropathol. Exp. Neurol. (1982) [Pubmed]
  32. Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice. Gupta, P., Soyombo, A.A., Atashband, A., Wisniewski, K.E., Shelton, J.M., Richardson, J.A., Hammer, R.E., Hofmann, S.L. Proc. Natl. Acad. Sci. U.S.A. (2001) [Pubmed]
  33. Ectopic white matter neurons, a developmental abnormality that may be caused by the PSEN1 S169L mutation in a case of familial AD with myoclonus and seizures. Takao, M., Ghetti, B., Murrell, J.R., Unverzagt, F.W., Giaccone, G., Tagliavini, F., Bugiani, O., Piccardo, P., Hulette, C.M., Crain, B.J., Farlow, M.R., Heyman, A. J. Neuropathol. Exp. Neurol. (2001) [Pubmed]
  34. Leber's hereditary optic neuropathy (LHON/11778) with myoclonus: report of two cases. Carelli, V., Valentino, M.L., Liguori, R., Meletti, S., Vetrugno, R., Provini, F., Mancardi, G.L., Bandini, F., Baruzzi, A., Montagna, P. J. Neurol. Neurosurg. Psychiatr. (2001) [Pubmed]
  35. Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutation. Roubergue, A., Apartis, E., Vidailhet, M., Mignot, C., Tullio-Pelet, A., Lyonnet, S., de Villemeur, T.B. Mov. Disord. (2004) [Pubmed]
  36. Seizures and myoclonus associated with antidepressant treatment: assessment of potential risk factors, including CYP2D6 and CYP2C19 polymorphisms, and treatment with CYP2D6 inhibitors. Spigset, O., Hedenmalm, K., Dahl, M.L., Wiholm, B.E., Dahlqvist, R. Acta psychiatrica Scandinavica. (1997) [Pubmed]
  37. Stimulus-induced myoclonus and burst suppression on EEG: effects of phenytoin toxicity. Trauner, D.A. Ann. Neurol. (1985) [Pubmed]
  38. Animal model of posthypoxic myoclonus: effects of serotonergic antagonists. Pappert, E.J., Goetz, C.G., Vu, T.Q., Ling, Z.D., Leurgans, S., Raman, R., Carvey, P.M. Neurology (1999) [Pubmed]
  39. Postural changes, tremor, and myoclonus in the rat immediately following injections of p-chloromaphetamine. Growdon, J.H. Neurology (1977) [Pubmed]
  40. Outcome from coma after cardiopulmonary resuscitation: relation to seizures and myoclonus. Krumholz, A., Stern, B.J., Weiss, H.D. Neurology (1988) [Pubmed]
  41. Effects of allylglycine on photosensitivity in the lateral geniculate-kindled cat. Wada, Y., Okuda, H., Yamaguchi, N., Yoshida, K. Exp. Neurol. (1986) [Pubmed]
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