Variable K+ channel subunit dysfunction in inherited mutations of KCNA1

Journal of Physiology

Volumn 538, Issue 1, 2002, Pages 5-23

  Rea, Ruth ^a   Spauschus, Alexander ^a,b   Eunson, Louise H ^a   Hanna, Michael G ^a   Kullmann, Dimitri M ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF BONN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; GENE PRODUCT; GREEN FLUORESCENT PROTEIN; HYBRID PROTEIN; KCNA 1 PROTEIN; POTASSIUM CHANNEL; POTASSIUM ION; UNCLASSIFIED DRUG; POTASSIUM CHANNEL KV1.1;

ANIMAL CELL; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CALCULATION; CARBOXY TERMINAL SEQUENCE; CELL KINETICS; CELL MEMBRANE PERMEABILITY; CHANNEL GATING; COMORBIDITY; CONFOCAL LASER MICROSCOPY; CONTROLLED STUDY; EPISODIC ATAXIA TYPE 1; FEMALE; GENE EXPRESSION; GENETIC CODE; MEMBRANE ELECTROPHYSIOLOGY; MUTATIONAL ANALYSIS; MYOKYMIA; NONHUMAN; OOCYTE; PHENOTYPIC VARIATION; POTASSIUM TRANSPORT; PRIORITY JOURNAL; RECORDING; SEIZURE; WILD TYPE; XENOPUS; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HEREDITARY ATAXIA; HUMAN; KCNA1 GENE; PATCH CLAMP TECHNIQUE; PHENOTYPE; POTASSIUM CHANNELOPATHY; POTASSIUM CURRENT; PROTEIN ASSEMBLY; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PROTEIN TRANSPORT;

EID: 0036400556     PISSN: 00223751     EISSN: None     Source Type: Journal    
DOI: 10.1113/jphysiol.2001.013242     Document Type: Article

References (40)

1. ADELMAN, J. P., BOND, C. T., PESSIA, M. & MAYLIE, J. (1995). Episodic ataxia results from voltage-dependent potassium channels with altered functions. Neuron 15, 1449-1454.
2. 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, 403-406.
3. BOLAND, L. M., PRICE, D. L. & JACKSON, K. A. (1999). Episodic ataxia/myokymia mutations functionally expressed in the Shaker potassium channel. Neuroscience 91, 1557-1564.
4. 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 type1I (EA-1). European Journal of Neuroscience 11, 2403-2412.
5. 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, 136-140.
6. BRUNT, E. R. & VAN WEERDEN, T. W. (1990). Familial paroxysmal kinesigenic ataxia and continuous myokymia. Brain 113, 1361-1382.
7. 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, 53-55.
8. COLEMAN, S. K., NEWCOMBE, J., PRYKE, J. & DOLLY, J. O. (1999). Subunit composition of Kv1 channels in human CNS. Journal of Neurochemistry 73, 849-858.
9. COMU, S., GIULIANI, M. & NARAYANAN, V. (1996). Episodic ataxia and myokymia syndrome: a new mutation of potassium channel gene Kv 1.1. Annals of Neurology 40, 684-687.
10. D'ADAMO, M. C., Liu, Z., ADELMAN, J. P., MAYLIE, J. & PESSIA, M. (1998). Episodic ataxtia type-1 mutations in the hKv1.1 cytoplasmic pore region alter the gating properties of the channel. EMBO Journal 17, 1200-1207.
11. + conduction and selectivity. Science 280, 69-77.
12. 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, 647-656.
13. GANCHER, S. T. & NUTT, J. G. (1986). Amosomal dominant episodic ataxia: a heterogeneous syndrome. Movement Disorders, 1, 239-53.
14. HEGINBOTHAM, L. & MACKINNON, R. (1992). The aromatic binding site for tetraethylammonium ion on potassium channels. Neuron 8, 483-491.
15. ISACOFF, E. Y., JAN, Y. N. & JAN, L. Y. (1990). Evidence for the formation of heteromultimeric potassium channels in Xenopus oocytes. Nature 345, 530-534.
16. + 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, 14021-14024.
17. 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, 493-497.
18. + channels by interaction with a family of membrane-associated guanylate kinases. Nature 378, 85-88.
19. KUPPER, J. (1998). Functional expression of GFP-tagged Kv1.3 and Kv1.4 channels in HEK 293 cells. European Journal of Neuroscience 10, 3908-3912.
20. + channel α subunit modulates the inactivation conferred by a β subunit. Involvement of cytoskeleton. Journal ofBiological Chemistry 271, 29321-29328.
21. + channel determined by construction of multimeric cDNAs. Neuron 9, 861-871.
22. 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, 702-709.
23. 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, 400-405.
24. + channel subunits does not ensure the stoichiometry of expressed channels. Biophysical Journal 63, 1406-1411.
25. + channels. Science 250, 276-279.
26. PONGS, O. (1999). Voltage-gated potassium channels: from hyperexcitability to excitement. FEBS Letters 452, 31-35.
27. 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, 464-466. (Published erratum appears in Human Genetics 102, 713 (1998).)
28. SCHULTEIS, C. T., NAGAYA, N. & PAPAZIAN, D. M. (1998). Subunit folding and assembly steps are interspersed during Shaker potassium channel biogenesis. Journal ofBiological Chemistry 273, 26210-26217.
29. SINGH, N. A., CHARLIER, C., STAUFFER, D., DUPONT, B. R., LEACH, R. J., MELIS, R., RONEN, G. M., BJERRE, L, 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, 25-29.
30. v1.1 potassium channel causes epilepsy in mice. Neuron 20, 809-819.
31. SOKAL, R. R. & RoHLF, F. J. (1995). Biometry, 3rd edn. W. H. Freeman and Co., New York.
32. 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, 73-77.
33. 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, 442-446.
34. STRYER, L. (1995). Biochemistry, 4th edition. W. H. Freeman and Co., NewYork.
35. + channel subunits. Biophysical Journal 72, 1489-1500.
36. + channel assembly. Biophysical Journal 76, 2004-2017.
37. 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, 4588-4599.
38. ZERR, P., ADELMAN, J. P. & MAYLIE, J. (1998a). Characterization of three episodic ataxia mutations in the human Kv1.1 potassium channel. FEBS Letters 431, 461-464.
39. 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, 2842-2848.
40. 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, 817-825.