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  • Adelman, J. P., Bond, C. T., Pessia, M. & Maylie, J. (1995). Episodic ataxia results from voltage-dependent potassium channels with altered functions. Neuron 15, 14491454.
  • Biervert, C., Schroeder, B. C., Kubisch, C., Berkovic, S. F., Propping, P., Jentsch, T. J. & Steinlein, O. K. (1998). A potassium channel mutation in neonatal human epilepsy. Science 279, 403406.
  • Boland, L. M., Price, D. L. & Jackson, K. A. (1999). Episodic ataxia/myokymia mutations functionally expressed in the Shaker potassium channel. Neuroscience 91, 15571564.
  • Bretschneider, F., Wrisch, A., Lehmann-Horn, F. & Grissmer, S. (1999). Expression in mammalian cells and electrophysiological characterization of two mutant Kv1. 1 channels causing episodic ataxia type 1 (EA-1). European Journal of Neuroscience 11, 24032412.
  • Browne, D. L., Gancher, S. T., Nutt, J. G., Brunt, E. R., Smith, E. A., Kramer, P. & Litt, M. (1994). Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nature Genetics, 8, 136140.
  • Brunt, E. R. & van Weerden, T. W. (1990). Familial paroxysmal kinesigenic ataxia and continuous myokymia. Brain 113, 13611382.
  • Charlier, C., Singh, N. A., Ryan, S. G., Lewis, T. B., Reus, B. E., Leach, R. J. & Leppert, M. (1998). A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nature Genetics 18, 5355.
  • Coleman, S. K., Newcombe, J., Pryke, J. & Dolly, J. O. (1999). Subunit composition of Kv1 channels in human CNS. Journal of Neurochemistry 73, 849858.
  • Comu, S., Giuliani, M. & Narayanan, V. (1996). Episodic ataxia and myokymia syndrome: a new mutation of potassium channel gene Kv1. 1. Annals of Neurology 40, 684687.
  • D'Adamo, M. C., Liu, Z., Adelman, J. P., Maylie, J. & Pessia, M. (1998). Episodic ataxia type-1 mutations in the hKv1. 1 cytoplasmic pore region alter the gating properties of the channel. EMBO Journal 17, 12001207.
  • Doyle, D. A., Morais Cabral, J., Pfuetzner, R. A., Kuo, A., Gulbis, J. M., Cohen, S. L., Chait, B. T. & MacKinnon, R. (1998). The structure of the potassium channel: molecular basis of K+ conduction and selectivity. Science 280, 6977.
  • 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. (2000). Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability. Annals of Neurology 48, 647656.
  • Gancher, S. T. & Nutt, J. G. (1986). Autosomal dominant episodic ataxia: a heterogeneous syndrome. Movement Disorders, 1, 23953.
  • Heginbotham, L. & MacKinnon, R. (1992). The aromatic binding site for tetraethylammonium ion on potassium channels. Neuron 8, 483491.
  • Isacoff, E. Y., Jan, Y. N. & Jan, L. Y. (1990). Evidence for the formation of heteromultimeric potassium channels in Xenopus oocytes. Nature 345, 530534.
  • Jing, J., Peretz, T., Singer-Lahat, D., Chikvashvili, D., Thornhill, W. B. & Lotan, I. (1997). Inactivation of a voltage-dependent K+ channel by β subunit. Modulation by a phosphorylation-dependent interaction between the distal C terminus of α subunit and cytoskeleton. Journal of Biological Chemistry 272, 1402114024.
  • Kavanaugh, M. P., Hurst, R. S., Yakel, J., Varnum, M. D., Adelman, J. P. & North, R. A. (1992). Multiple subunits of a voltage-dependent potassium channel contribute to the binding site for tetraethylammonium. Neuron 8, 493497.
  • Kim, E., Niethammer, M., Rothschild, A., Jan, Y. N. & Sheng, M. (1995). Clustering of Shaker-type K+ channels by interaction with a family of membrane-associated guanylate kinases. Nature 378, 8588.
  • Kupper, J. (1998). Functional expression of GFP-tagged Kv1. 3 and Kv1.4 channels in HEK 293 cells. European Journal of Neuroscience 10, 39083912.
  • Levin, G., Chikvashvili, D., Singer-Lahat, D., Peretz, T., Thornhill, W. B. & Lotan, I. (1996). Phosphorylation of a K+ channel α subunit modulates the inactivation conferred by a β subunit. Involvement of cytoskeleton. Journal of Biological Chemistry 271, 2932129328.
  • Liman, E. R., Tytgat, J. & Hess, P. (1992). Subunit stoichiometry of a mammalian K+ channel determined by construction of multimeric cDNAs. Neuron 9, 861871.
  • Litt, M., Kramer, P., Browne, D., Gancher, S., Brunt, E. R., Root, D., Phromchotikul, T., Dubay, C. J. & Nutt, J. (1994). A gene for episodic ataxia/myokymia maps to chromosome 12p13. American Journal of Human Genetics 55, 702709.
  • Lubbers, W. J., Brunt, E. R., Scheffer, H., Litt, M., Stulp, R., Browne, D. L. & van Weerden, T. W. (1995). Hereditary myokymia and paroxysmal ataxia linked to chromosome 12 is responsive to acetazolamide. Journal of Neurology, Neurosurgery and Psychiatry 59, 400405.
  • McCormack, K., Lin, L., Iverson, L. E., Tanouye, M. A. & Sigworth, F. J. (1992). Tandem linkage of Shaker K+ channel subunits does not ensure the stoichiometry of expressed channels. Biophysical Journal 63, 14061411.
  • MacKinnon, R. & Yellen, G. (1990). Mutations affecting TEA blockade and ion permeation in voltage- activated K+ channels. Science 250, 276279.
  • Pongs, O. (1999). Voltage-gated potassium channels: from hyperexcitability to excitement. FEBS Letters 452, 3135.
  • Scheffer, H., Brunt, E. R., Mol, G. J., van der Vlies, P., Stulp, R. P., Verlind, E., Mantel, G., Averyanov, Y. N., Hofstra, R. M. & Buys, C. H. (1998). Three novel KCNA1 mutations in episodic ataxia type I families. Human Genetics 102, 464466. (Published erratum appears in Human Genetics 102, 713 (1998).).
  • Schulteis, C. T., Nagaya, N. & Papazian, D. M. (1998). Subunit folding and assembly steps are interspersed during Shaker potassium channel biogenesis. Journal of Biological Chemistry 273, 2621026217.
  • Singh, N. A., Charlier, C., Stauffer, D., Dupont, B. R., Leach, R. J., Melis, R., Ronen, G. M., Bjerre, I., Quattlebaum, T., Murphy, J. V., McHarg, M. L., Gagnon, D., Rosales, T. O., Peiffer, A., Anderson, V. E. & Leppert, M. (1998). A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nature Genetics 18, 2529.
  • Smart, S. L., Lopantsev, V., Zhang, C. L., Robbins, C. A., Wang, H., Chiu, S. Y., Schwartzkroin, P. A., Messing, A. & Tempel, B. L. (1998). Deletion of the KV1. 1 potassium channel causes epilepsy in mice. Neuron 20, 809819.
  • Sokal, R. R. & Rohlf, F. J. (1995). Biometry, 3rd edn. W. H. Freeman and Co., New York .
  • Songyang, Z., Fanning, A. S., Fu, C., Xu, J., Marfatia, S. M., Chishti, A. H., Crompton, A., Chan, A. C., Anderson, J. M. & Cantley, L. C. (1997). Recognition of unique carboxyl-terminal motifs by distinct PDZ domains. Science 275, 7377.
  • Spauschus, A., Eunson, L., Hanna, M. G. & Kullmann, D. M. (1999). Functional characterization of a novel mutation in KCNA1 in episodic ataxia type 1 associated with epilepsy. Annals of the New York Academy of Sciences 868, 442446.
  • Stryer, L. (1995). Biochemistry, 4th editon. W. H. Freeman and Co., New York .
  • Tiwari-Woodruff, S. K., Schulteis, C. T., Mock, A. F. & Papazian, D. M. (1997). Electrostatic interactions between transmembrane segments mediate folding of Shaker K+ channel subunits. Biophysical Journal 72, 14891500.
  • Tu, L. & Deutsch, C. (1999). Evidence for dimerization of dimers in K+ channel assembly. Biophysical Journal 76, 20042017.
  • Wang, H., Kunkel, D. D., Schwartzkroin, P. A. & Tempel, B. L. (1994). Localization of Kv1. 1 and Kv1.2, two K channel proteins, to synaptic terminals, somata, and dendrites in the mouse brain. Journal of Neuroscience 14, 45884599.
  • Zerr, P., Adelman, J. P. & Maylie, J. (1998a). Characterization of three episodic ataxia mutations in the human Kv1. 1 potassium channel. FEBS Letters 431, 461464.
  • Zerr, P., Adelman, J. P. & Maylie, J. (1998b). Episodic ataxia mutations in Kv1. 1 alter potassium channel function by dominant negative effects or haploinsufficiency. Journal of Neuroscience 18, 28422848.
  • Zuberi, S. M., Eunson, L. H., Spauschus, A., De Silva, R., Tolmie, J., Wood, N. W., McWilliam, R. C., Stephenson, J. P., Kullmann, D. M. & Hanna, M. G. (1999). A novel mutation in the human voltage-gated potassium channel gene (Kv1. 1) associates with episodic ataxia type 1 and sometimes with partial epilepsy. Brain 122, 817825.