Deletion of the K(v)1.1 Potassium channel causes epilepsy in mice

Neuron

Volumn 20, Issue 4, 1998, Pages 809-819

  Smart, Sharon L ^a   Lopantsev, Valeri ^b   Zhang, C L ^c   Robbins, Carol A ^b   Wang, Hao ^a   Chiu, S Y ^c   Schwartzkroin, Philip A ^b   Messing, Albee ^c   Tempel, Bruce L ^a  

^a Virginia Merrill Bloedel Hearing Research Center   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

^c UNIVERSITY OF WISCONSIN MADISON   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

POTASSIUM CHANNEL; VOLTAGE GATED CHANNEL FORMING PROTEIN;

ACTION POTENTIAL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ANTIDROMIC STIMULATION; ARTICLE; ATAXIA; BRAIN SLICE; CONTROLLED STUDY; ELECTROENCEPHALOGRAM; EPILEPSY; EPILEPTIC DISCHARGE; GENE DELETION; HIPPOCAMPUS; MISSENSE MUTATION; MOSSY FIBER; MOUSE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PYRAMIDAL NERVE CELL; SCIATIC NERVE; SEIZURE;

EID: 0032055649     PISSN: 08966273     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0896-6273(00)81018-1     Document Type: Article

References (67)

1. Adelman, J.P., Bond, C.T., Pessia, M., and Maylie, J. (1995). Episodic ataxia results from voltage-dependent potassium channels with altered functions. Neuron 15, 1449-1454.
2. + channel blocker. Neurosci. Lett. 139, 34-40.
3. Baumann, A., Grupe, A., Ackermann, A., and Pongs, O. (1988). Structure of the voltage-dependent potassium channel is highly conserved from Drosophila to vertebrate central nervous systems. EMBO J. 7, 2457-2463.
4. V1.1, a mouse Shaker-like potassium channel gene, when stably expressed in CHO cells. J. Neurosci. 13, 5242-5250.
5. Browne, D.L., Gancher, S.T., Nutt, J.G., Brunt, E.R.P., Smith, E.A., Kramer, P., and Litt, M. (1994). Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nature Genet. 8, 136-140.
6. Brunt, E.R.P., and van Weerden, T.W. (1990). Familial paroxysmal kinesiogenic ataxia and continuous myokymia. Brain 113, 1361-1382.
7. Brusa, R., Zimmermann, F., Koh, D.S., Feldmeyer, D., Gass, P., Seeburg, P.H., and Sprengel, R. (1995). Early-onset epilepsy and postnatal lethality associated with an editing-deficient GluR-B allele in mice. Science 270, 1677-1680.
8. Buckmaster, P.S., Stowbridge, B.W., and Schwartzkroin, P.A. (1993). A comparison of rat hippocampal mossy cells and CA3c pyramidal cells. J. Neurophys. 70, 1281-1299.
9. 2+ channel β subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse. Cell 88, 385-392.
10. Chagnac-Amatai, Y., and Connors, B.W. (1989). Horizontal spread of synchronized activity in neocortex and its control by GABA-mediated inhibition. J. Neurophys. 61, 747-58.
11. Charlier, C., Singh, N.A., Ryan, S.G., Lewis, T.B., Reus, B.E., Leach, R.J., and Leppert, M. (1998). A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nature Genet. 18, 53-55.
12. Chiu, S.Y., and Ritchie, J.M. (1981). Evidence for the presence of potassium channels in the paranodal region of acutely demyelinated mammalian single nerve fibres. J. Physiol. (Lond.) 313, 415-437.
13. Cronin, J., Obenaus, A., Houser, C.R., and Dudek, F.E. (1992). Electrophysiology of dentate granule cells after kainate-induced synaptic reorganization of the mossy fibers. Brain Res. 573, 305-310.
14. + conductance in hippocampus. Nature 389, 286-289.
15. Edwards, F.A., Konnerth, A., Sakmann, B., and Takahashi, T. (1989). A thin slice preparation for patch clamp recordings from neurones of the mammalian central nervous system. Pflügers Archiv. 414, 600-612.
16. Elmslie, F., and Gardiner, M. (1995). Genetics of the epilepsies. Curr. Opin. Neurol. 8, 126-129.
17. Fisher, R.S., Pedley, T.A., Moody, W.J., and Prince, D.A. (1976). The role of extracellular potassium in hippocampal epilepsy. Arch. Neurol. 33, 76-83.
18. Fletcher, C.F., Lutz, C.M., O'Sullivan, T.N., Shaughnessy, J., Jr., Hawkes, R., Frankel, W.N., Copeland, N.G., and Jenkins, N.A. (1996). Absence epilepsy in tottering mutant mice is associated with calcium channel defects. Cell 87, 607-617.
19. Franck, J.E., Pokorny, J., Kunkel, D.D., and Schwartzkroin, P.A. (1995). Physiologic and morphologic characteristics of granule cell circuitry in human epileptic hippocampus. Epilepsia 36, 543-558.
20. Gutman, G.A., and Chandy, K.G. (1993). Nomenclature of mammalian voltage-dependent potassium channel genes. Sem. Neurosci. 5, 101-106.
21. Hasty, P., Ramirez-Solis, R., Krumlauf, R., and Bradley, A. (1991). Introduction of a subtle mutation into the Hox-2.6 locus in embryonic stem cells. Nature 350, 243-246.
22. Hille, B. (1992). Ionic Channels of Excitable Membranes (Sunderland, MA: Sinauer).
23. + channel gene: reduced body weight, impaired motor skill and muscle contraction, but no seizures. Proc. Natl. Acad. Sci. USA 94, 1533-1538.
24. Isacoff, E.Y., Jan, Y.N., and Jan, L.Y. (1990). Evidence for the formation of heteromultimeric potassium channels in Xenopus oocytes. Nature 345, 530-534.
25. Jan, Y.N., Jan, L.Y., and Dennis, M.J. (1977). Two mutations of synaptic transmission in Drosophila. Proc. R. Soc. London (B) 198, 87-108.
26. Jensen, F.E., Applegate, D.D., Holtzman, S., Belin, T.R., and Burchfiel, J.L. (1991). Epileptogenic effect of hypoxia in the immature rodent brain. Ann. Neurol. 29, 629-637.
27. Jonas, P., Major, G., and Sakmann, B. (1993). Quantal components of unitary EPSCs at the mossy fiber synapse on CA3 pyramidal cells of rat hippocampus. J. Physiol. 472, 615-663.
28. Kamb, A., Tseng, C.J., and Tanouye, M.A. (1988). Multiple products of the Drosphila Shaker gene may contribute to potassium channel diversity. Neuron 1, 421-30.
29. + channels by interaction with a family of membrane-associated guanylate kinases. Nature 378, 85-88.
30. Kimura, J. (1981). Refractory period measurement in the clinical domain. In Demyelinating Disease: Basic and Clinical Electrophysiology, 31, S. Waxman and J. M. Ritchie, eds. (New York: Raven Press), pp. 239-265.
31. Kocsis, J.D., Ruiz, J.A., and Waxman, S.G. (1983). Maturation of mammalian myelinated fibers: changes in action-potential characteristics following 4-aminopyridine application. J. Neurophysiol. 50, 449-463.
32. Lock, L.F., Gilbert, D.J., Street, V.A., Migeon, M.B., Jenkins, N.A., Copeland, N.G., and Tempel, B.L (1994). Voltage-gated potassium channel genes are clustered in paralogous regions of the mouse genome. Genomics 20, 354-362.
33. Lothman, E.W., and Collins, R.C. (1981). Kainic acid induced limbic seizures: metabolic, behavioral, electroencephalographic and neuropathological correlates. Brain Res. 218, 299-318.
34. Matsumoto, M., Nakagawa, T., Inoue, T., Nagata, E., Tanaka, K., Takano, H., Minowa, O., Kuno, J., Sakakibara, S., Yamada, M., et al. (1996). Ataxia and epileptic siezures in mice lacking type 1 inositol 1,4,5-triphosphate receptor. Nature 379, 168-170.
35. McNamara, J.O. (1994). Cellular and molecular basis of epilepsy. J. Neurosci. 14, 3413-3425.
36. Mi, H., Deerinck, T.J., Ellisman, M.H., and Schwarz, T.L. (1995). Differential distribution of closely related potassium channels in rat Schwann cells. J. Neurosci. 15, 3761-3774.
37. Miles, R., and Wong, R.K.S. (1983). Single neurones can initiate synchronized population discharge in the hippocampus. Nature 306, 371-373.
38. Moody, W.J., Futamachi, K.J., and Prince, D.A. (1974). Extracellular potassium activity during epileptogenesis. Exper. Neurol. 42, 248-263.
39. Noebels, J.L. (1996). Targeting epilepsy genes. Neuron 16, 241-244.
40. Papazian, D.M., Schwarz, T.L., Tempel, B.L, Jan, Y.N., and Jan, L.Y. (1987). Cloning of genomic and complementary DNA from Shaker, a putative potassium channel gene from Drosophila. Science 237, 749-753.
41. + channel proteins in the nervous system of Drosophila. EMBO J. 7, 2457-2463.
42. Prichard, J.W., Gallagher, B.B., and Glaser, G.H. (1969). Experimental seizure-threshold testing with flurothyl. J. Pharmacol. Exp. Ther. 166, 170-178.
43. Ramirez-Solis, R., Davis, A.C., and Bradley, A. (1993). Gene targeting in embryonic stem cells. Meth. Enzymol. 225, 855-878.
44. + channels altered by presence of beta-subunit. Nature 369, 289-294.
45. + channel α and β subunit polypeptidesin rat brain. J. Neurosci. 15, 5360-5371.
46. Ruppersberg, J.P., Schroter, K.H., Sakmann, B., Stocker, M., Sewing, S., and Pongs, O. (1990). Heteromultimeric channels formed by rat brain potassium-channel proteins. Nature 345, 535-537.
47. Rutecki, P.A., Lebeda, F.J., and Johnston, D. (1990). Epileptiform activity in the hippocampus produced by tetraethylammonium. J. Neurophysiol. 64, 1077-1088.
48. Salkoff, L., and Wyman, R. (1981). Genetic modification of potassium channels in Drosophila Shaker mutants. Nature 293, 228-230.
49. Scharfman, H.E. (1996). Conditions required for polysynaptic excitation of dentate granule cells by area CA3 pyramidal cells in rat hippocampal slices. Neuroscience 72, 655-668.
50. Schwartzkroin, P.A. (1994). Cellular electrophysiology of human epilepsy. Epilepsy Res. 17, 185-192.
51. Schwarz, T.L., Tempel, B.L, Papazian, D.M., Jan, Y.N., and Jan, L.Y. (1988). Multiple potassium channel components are produced by alternative splicing at the Shaker locus in Drosophila. Nature 331, 137-142.
52. + channels detected in vivo. Nature 365, 72-75.
53. 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., et al. (1998). A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nature Genet. 18, 25-29.
54. Steinlein, O.K., Mulley, J.C., Propping, P., Wallace, R.H., Phillips, H. A., Sutherland, G.R., Scheffer, I.E., and Berkovic, S.F. (1995). A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nature Genet. 11, 201-203.
55. Street, V.A., Bosma, M.M., Demas, V.P., Regan, M.R., Lin, D.D., Robinson, L.C., Agnew, W.S., and Tempel, B.L (1997). The type 1 inositol 1,4,5-triphosphate receptor gene is altered in the opisthotonos mouse. J. Neurosci. 17, 635-645.
56. Stuhmer, W., Stocker, M., Sakmann, B., Seeburg, P., Baumann, A., Grupe, A., and Pongs, O. (1988). Potassium channels expressed from rat brain cDNA have delayed rectifier properties. FEBS. Lett. 242, 199-206.
57. Tanouye, M.A., Ferrus, A., and Fujita, S.C. (1981). Abnormal action potentials associated with the Shaker complex locus of Drosophila. Proc. Natl. Acad. Sci. USA 78, 6548-6552.
58. + channel component encoded at the Shaker locus of Drosophila. Science 237, 770-775.
59. Tempel, B.L, Jan, Y.N., and Jan, L.Y. (1988). Cloning of a probable potassium channel gene from mouse brain. Nature 332, 837-839.
60. Traub, R.D., Miles, R., Wong, R.K.S., Schulman, L.S., and Schneiderman, J.H. (1987). Models of synchronized hippocampal bursts in the presense of inhibition. II. Ongoing spontaneous population events. J. Neurophys. 58, 752-64.
61. Traynelis, S.F., and Dingledine, R. (1988). Potassium-induced spontaneous electrographic seizures in the rat hippocampal slice. J. Neurophysiol. 59, 259-276.
62. V1 channel subunits: contrasting subcellular locations and neuron-specific co-localizations in rat brain. Eur. J. Neurosci. 7, 2189-2205.
63. + channels in terminal and juxta-paranodal regions of neurons. Nature 365, 75-79.
64. V1.2, two K channel proteins, to synaptic terminals, somata and dendrites in the mouse brain. J. Neurosci. 14, 4588-4599.
65. + channel expression in mouse mutants shiverer and trembler. Neuron 15, 1337-1347.
66. Wong, R.K.S., and Traub, R.D. (1983a). Synchronized burst discharge in disinhibited hippocampal slice. I. Initiation in CA2-CA3 region. J. Neurophys. 49, 442-458.
67. Wong, R.K.S., and Traub, R.D. (1983b). Synchronized burst discharge in disinhibited hippocampal slice. II. Model of cellular mechanism. J. Neurophys. 49, 459-471.