The neurobiology of episodic ataxia type 1, a shaker-like K+ channel disorder

Ataxia: Causes, Symptoms and Treatment

Volumn , Issue , 2012, Pages 47-75

  Cristina, D'Adamo Maria ^a   Paola, Imbrici ^a   Di Giovanni, Giuseppe ^b   Mauro, Pessia ^a  

^a UNIVERSITY OF PERUGIA   (Italy)

^b UNIVERSITY OF MALTA   (Malta)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84892115375     PISSN: None     EISSN: None     Source Type: Book    
DOI: None     Document Type: Chapter

References (123)

1. Adelman JP, Bond CT, Pessia M, Maylie J. (1995) Episodic ataxia results from voltage-dependent potassium channels with altered functions. Neuron 15: 1449-1454.
2. Aldrich RW Jr, Getting PA, Thompson SH. (1979) Mechanism of frequency-dependent broadening of molluscan neurone soma spikes. J. Physiol. 291: 531-544.
3. Arroyo EJ, Xu YT, Zhou L, Messing A, Peles E, Chiu SY and Scherer SS (1999). Myelinating Schwann cells determine the internodal localization of Kv1.1, Kv1.2, Kvbeta2, and Caspr. J. Neurocytol. 28: 333-47.
4. Baukrowitz T, Yellen G. (1995) Modulation of K+ current by frequency and external [K+]: a tale of two inactivation mechanisms. Neuron 15: 951-960.
5. Bennett LB, Roach ES, Bowcock AM. (2000) A locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16. Neurology 54: 125-30.
6. Browne DL, Gancher ST, Nutt JG, Brunt ER, Smith EA, Kramer P, Litt M. (1994) Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nat. Genet. 8: 136-140.
7. Browne DL, Brunt ER, Griggs RC, Nutt JG, Gancher ST, Smith EA, Litt M. Identification of two new KCNA1 mutations in episodic ataxia/myokymia families. Hum. Mol. Genet. 4: 1671-1672, 1995.
8. Bruno MK, Hallett M, Gwinn-Hardy K, Sorensen B, Considine E, Tucker S, Lynch DR, Mathews KD, Swoboda KJ, Harris J, Soong BW, Ashizawa T, Jankovic J, Renner D, Fu YH, Ptacek LJ. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. Neurology. 2004; 63: 2280-7.
9. Brunt ERP, van Weerden TW. (1990) Familial paroxysmal kinesigenic ataxia and continuous myokymia. Brain 113: 1361-1382.
10. Cader M, Steckley J, Dyment D, McLachlan R, Ebers G (2005) A genome-wide screen and linkage mapping for a large pedigree with episodic ataxia. Neurology 65:156-8.
11. Chen G, Hanson CL, Dunbar RL, Ebner TJ. (1999) Novel form of spreading acidification and depression in the cerebellar cortex demonstrated by neutral red optical imaging. J. Neurophysiol. Apr;81(4):1992-8.
12. Chen G, Gao W, Reinert KC, Popa LS, Hendrix CM, Ross ME, Ebner TJ. (2005) Involvement of kv1 potassium channels in spreading acidification and depression in the cerebellar cortex. J. Neurophysiol. Aug;94(2):1287-98.
13. Chen DH, Matsushita M, Rainier S, Meaney B, Tisch L, Feleke A, Wolff J, Lipe H, Fink J, Bird TD, Raskind WH. Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal non-kinesigenic dyskinesia: confirmation in 2 kindreds. Arch. Neurol. 2005; 62: 597-600.
14. Chen H, von Hehn C, Kaczmarek LK, Ment LR, Pober BR, Hisama FM (2007) Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia. Neurogenetics 8:131-5.
15. Comu S, Giuliani M, Narayanan V. Episodic ataxia and myokymia syndrome: a new mutation of potassium channel gene Kv1.1. Ann. Neurol. Oct;40(4):684-7, 1996.
16. Cusimano A, D'Adamo MC, Pessia M (2004) An episodic ataxia type-1 mutation in the S1 segment sensitises the hKv1.1 potassium channel to extracellular Zn2+ FEBS. Lett 576:237-44.
17. D'Adamo MC, Imbrici P, Sponcichetti F, Pessia M. (1999) Mutations in the KCNA1 gene associated with episodic ataxia type-1 syndrome impair heteromeric voltage-gated K+ channel function. FASEB J. 13: 1335-1345.
18. D'Adamo MC, Liu Z, Adelman JP, 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 J. 17: 1200-1207.
19. De Marco FA, Ghizoni E, Kobayashi E, Li LM, Cendes F (2003) Cerebellar volume and long-term use of phenytoin. Seizure 12:312-15.
20. Demos MK, Macri V, Farrell K, Nelson TN, Chapman K, Accili E, Armstrong L (2009) A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction. Mov. Disord. 24:778-82.
21. de Vries B, Mamsa H, Stam AH, Wan J, Bakker SLM, Vanmolkot KRJ, Haan J, Terwindt GM, Boon EMJ, Howard BD, Frants RR, Baloh RW, Ferrari MD, Jen JC, van den Maagdenberg AMJM (2009) Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake. Arch. Neurol. 66:97-101.
22. Dove LS, Abbott LC, Griffith WH. (1998) Whole-cell and single-channel analysis of P-type calcium currents in cerebellar Purkinje cells of leaner mutant mice. J. Neurosci. 18: 7687-7699.
23. Doyle DA, Morais Cabral J, Pfuetzner RA, Kuo A, Gulbis JM, Cohen SL, Chait BT, Mackinnon R. (1998) The structure of the potassium channel: molecular basis of K+ conduction and selectivity. Science 280: 69-77.
24. Ebner TJ, Chen G. 2003 Spreading acidification and depression in the cerebellar cortex. Neuroscientist. Feb;9(1):37-45.
25. Escayg A, De Waard M, Lee DD, Bichet D, Wolf P, Mayer T, Johnston J, Baloh R, Sander T, Meisler MH (2000) Coding and non-coding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am. J. Hum. Genet 66:1531-9.
26. Eunson LH, Rea R, Zuberi SM, Youroukos S, Panayiotopoulos CP, Liguori R, Avoni P, McWilliam RC, Stephenson JB, Hanna MG, Kullmann DM, Spauschus A. (2000) Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability. Ann. Neurol. 48: 647-656.
27. Farmer TW, Mustian VM (1963) Vestibulo-cerebellar ataxia: a newly defined hereditary syndrome with periodic manifestations. Arch. Neurol. 8:471-80.
28. Fletcher CF, Lutz CM, O'Sullivan TN, Shaughnessy JD Jr, Hawkes R, Frankel WN, Copeland NG, Jenkins NA. (1996) Absence epilepsy in tottering mutant mice is associated with calcium channel defects. Cell 87: 607-617.
29. Frederickson CJ. (1989) Neurobiology of zinc and zinc-containing neurons. Int. Rev. Neurobiol. 31:145-238.
30. Geiger JR, Jonas P (2000) Dynamic control of presynaptic Ca(2+) inflow by fast-inactivating K(+) channels in hippocampal mossy fiber boutons. Neuron 28:927-39.
31. Glaudemans B, van der Wijst J, Scola RH, Lorenzoni PJ, Heister A, van der Kemp AW, Knoers NV, Hoenderop JG, Bindels RJ (2009) A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia. J. Clin. Invest. 119:936-42.
32. Goldberg EM, Clark BD, Zagha E, Nahmani M, Erisir A, Rudy B. K+ channels at the axon initial segment dampen near-threshold excitability of neocortical fast-spiking GABAergic interneurons. Neuron. May 8;58(3):387-400, 2008.
33. Graves TD, Rajakulendran S, Zuberi SM, Morris HR, Schorge S, Hanna MG, Kullmann DM. Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins. Neurology 75: 367-372, 2010.
34. Grissmer S, Cahalan M. (1989) TEA prevents inactivation while blocking open K+ channels in human T lymphocytes. Biophys. J. 55: 203-206.
35. Gutman GA, Chandy KG. (1993) Nomenclature of mammalian voltage-dependent potassium channel genes. Semin. Neurosci. 5: 101-106.
36. Hart IK, Maddison P, Newsom-Davis J, Vincent A, Mills KR (2002) Phenotypic variants of autoimmune peripheral nerve hyperexcitability. Brain 125:887-95.
37. Hamill OP, Marty A, Neher E, Sakmann B, Sigworth FJ. (1981) Improved patch-clamp techniques for high-resolution current recording from cells and cell-free membrane patches. Pflugers Arch. 391: 85-100.
38. Herson PS, Virk M, Rustay NR, Bond CT, Crabbe JC, Adelman JP, Maylie J (2003). A mouse model of episodic ataxia type-1. Nat. Neurosci. 6, 378-383.
39. Hille B. (2001) Ionic Channels of Excitable Membranes, 3rd. Sinauer, Sunderland, MA.
40. Hodgkin AL, Huxley AF. (1952) A quantitative description of membrane current and its application to conduction and excitation in nerve. J. Physiol. 117: 500-544.
41. Hoshi T, Zagotta WN, Aldrich RW. (1990) Biophysical and molecular mechanisms of Shaker potassium channel inactivation. Science 250: 533-538.
42. Hoshi T, Zagotta WN, Aldrich RW. (1991) Two types of inactivation in Shaker K+ channels: effects of alterations in the carboxy-terminal region. Neuron 7: 547-556.
43. Imbrici P, Cusimano A, D'Adamo MC, De Curtis A, Pessia M (2003) Functional characterization of an episodic ataxia type-1 mutation occurring in the S1 segment of hKv1.1 channels. Pflugers Arch. 446:373-79.
44. Imbrici P, D'Adamo MC, Kullmann DM, Pessia M (2006) Episodic Ataxia Type 1 Mutations in the KCNA1 Gene Impair the Fast Inactivation Properties of the Human K+ Channels Kv1.4-1.1/Kv1.1 and Kv1.4-1.2. Eur. J. Neurosci. 24:3073-83.
45. Imbrici P, D'Adamo MC, Cusimano A, Pessia M (2007) Episodic ataxia type 1 mutation F184C alters Zn2+-induced modulation of the human K+ channel Kv1.4-Kv1.1/Kvbeta1.1. Am. J. Physiol. Cell Physiol. 292:C778-87
46. Imbrici P, Gualandi F, D'Adamo MC, Taddei Masieri M, Cudia P, De Grandis D, Mannucci R, Nicoletti I, Tucker SJ, Ferlini A, Pessia M (2008) A Novel KCNA1 Mutation Identified in an Italian Family Affected by Episodic Ataxia Type 1. Neuroscience 157:577-87.
47. Imbrici P, Grottesi A, D'Adamo MC, Mannucci R, Tucker S, Pessia M (2009) Contributions of the central hydrophobic residue in the PXP motif of Voltage-Dependent K+ Channels to S6 flexibility and Gating Properties. Channels (Austin) 3:39-45.
48. Imbrici P, D'Adamo MC, Grottesi A, Biscarini A, Pessia M. (2011) Episodic ataxia type 1 mutations affect fast inactivation of K+ channels by a reduction in either subunit surface expression or affinity for inactivation domain. Am. J. Physiol. Cell Physiol. Jun;300(6):C1314-22.
49. Isacoff EY, Jan NY, Jan LY. (1990) Evidence for the formation of heteromultimeric potassium channels in Xenopus oocytes. Nature 345: 530-534.
50. Jan YN, Jan LY, Dennis MJ. (1977) Two mutations of synaptic transmission in Drosophila. Proc. R. Soc. Lond. B Biol. Sci. 198: 87-108.
51. Jen J. (1999) Calcium channelopathies in the central nervous system. Curr. Opin. Neurobiol. 9: 274-280.
52. Jen JC, Wan J, Palos TP, Howard BD, Baloh RW (2005) Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures. Neurology 65:529-34.
53. Jiang Y, Lee A, Chen J, Ruta V, Cadene M, Chait BT, MacKinnon R. (2003a) X-ray structure of a voltage-dependent K+ channel. Nature 423: 33-41.
54. Jiang Y, Ruta V, Chen J, Lee A, MacKinnon R. (2003b) The principle of gating charge movement in a voltage-dependent K+ channel. Nature 423: 42-8.
55. Kaplan WD, Trout WE. (1969) The behaviour of four neurological mutants of Drosophila. Genetics 61: 399-409.
56. Kerber KA, Jen JC, Lee H, Nelson SF, Baloh RW (2007) A new episodic ataxia syndrome with linkage to chromosome 19q13. Arch. Neurol. 64:749-52
57. Kinali M, Jungbluth H, Eunson LH, Sewry CA, Manzur AY, Mercuri E, Hanna MG and Muntoni F (2004). Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent episodic ataxia. Neuromuscul. Disord. 14, 689-693.
58. Klein A, Boltshauser E, Jen J, Baloh RW (2004) Episodic ataxia type 1 with distal weakness: a novel manifestation of a potassium channelopathy. Neuropediatrics 35:147-9.
59. Kleopa KA, Elman LB, Lang B, Vincent A, Scherer SS (2006) Neuromyotonia and limbic encephalitis sera target mature Shaker-type K+ channels: subunit specificity correlates with clinical manifestations. Brain 129:1570-84.
60. Kramer PL, Yue Q, Gancher ST, Nutt JG, Baloh R, Smith E, Browne D, Bussey K, Lovrien K, Nelson S, Litt M. (1995) A locus for the nystagmus-associated form of episodic ataxia maps to an 11cM region on chromosome 19p. Am. J. Hum. Genet. 57: 182-185.
61. Kullmann DM (2010). Neurological channelopathies. Ann Rev Neurosci 33, 151-72.
62. Llano I, Tan YP and Caputo C (1997). Spatial heterogeneity of intracellular Ca2+ signals in axons of basket cells from rat cerebellar slices. J. Physiol. 502, 509-19.
63. Lau D, Vega-Saenz de Miera EC, Contreras D, Ozaita A, Harvey M, Chow A, Noebels JL, Paylor R, Morgan JI, Leonard CS, Rudy B. (2000) Impaired fast-spiking, suppressed cortical inhibition, and increased susceptibility to seizures in mice lacking Kv3.2 K+ channel proteins. J. Neurosci. 15;20(24):9071-85.
64. Laube G, Roper J, Pitt JC, Sewing S, Kistner U, Garner CC, Pongs O, Veh RW. (1996) Ultrastructural localization of Shaker-related potassium channel subunits and synapse-associated protein 90 to separate-like junctions in rat cerebellar Pinceaux. Brain Res. Mol. Brain Res. 42: 51-61.
65. Lee HY, Xu Y, Huang Y, Ahn AH, Auburger GW, Pandolfo M, Kwiecinski H, Grimes DA, Lang AE, Nielsen JE, Averyanov Y, Servidei S, Friedman A, Van Bogaert P, Abramowicz MJ, Bruno MK, Sorensen BF, Tang L, Fu YH, Ptacek LJ. The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway. Hum. Mol. Genet. 2004; 13: 3161-70.
66. Liguori A, Napoli A, Sindona G. (2001) Electron transfer vs. proton transfer within radical-cation clusters of guanosine and deoxyguanosine with substituted naphthalenes and sinapinic acid. J. Am. Soc. Mass. Spectrom. 12(2):176-9.
67. Litt M, Kramer P, Browne D, Gancher S, Brunt ER, Root D, Phromchotikul T, Dubay CJ, Nutt J. (1994) A gene for episodic ataxia/myokymia maps to chromosome 12p13. Am. J. Hum. Genet. 55: 702-709.
68. Liu Y, Holmgren M, Jurman ME, Yellen G. (1997) Gated access to the pore of a voltage-dependent K+ channel. Neuron 19: 175-184.
69. Lopantsev V, Wenzel HJ, Cole TB, Palmiter RD, Schwartzkroin PA. (2003) Lack of vesicular zinc in mossy fibers does not affect synaptic excitability of CA3 pyramidal cells in zinc transporter 3 knockout mice. Neuroscience.;116(1):237-48.
70. Lopez-Barneo J, Hoshi T, Heinemann SH, Aldrich RW. (1993) Effects of external cations and mutations in the pore region on C-type inactivation of Shaker potassium channels. Receptors Channels 1: 61-71.
71. Manganas LN, Akhtar S, Antonucci DE, Campomanes CR, Dolly JO, Trimmer JS. (2001) Episodic ataxia type-1 mutations in the Kv1.1 potassium channel display distinct folding and intracellular trafficking properties. J. Biol. Chem. 276: 49427-49434.
72. McNamara NM, Muniz ZM, Wilkin GP, Dolly JO. (1993) Prominent location of a K+ channel containing the alpha subunit Kv 1.2 in the basket cell nerve terminals of rat cerebellum. Neuroscience. Dec;57(4):1039-45.
73. Meijer IA, Hand CK, Grewal KK, Stefanelli MG, Ives EJ, Rouleau GA (2002) A locus for autosomal dominant hereditary spastic ataxia, SAX1, maps to chromosome 12p13. Am. J. Hum. Genet. 70:763-9.
74. Molina A, Castellano AG, Lopez Barneo J. (1997) Pore mutations in Shaker K+ channels distinguish between the sites of tetraethylammonium blockade and C-type inactivation. J. Physiol. (Lond.) 499: 361-367.
75. Neher E, Sakmann B. (1976) Single-channel currents recorded from membrane of denervated frog muscle fibres. Nature 260: 779-802.
76. Ogiwara I, Miyamoto H, Morita N, Atapour N, Mazaki E, Inoue I, Takeuchi T, Itohara S, Yanagawa Y, Obata K, Furuichi T, Hensch TK, Yamakawa K. (2007) Na(v)1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation. J. Neurosci. 30;27(22):5903-14.
77. Ophoff RA, Terwindt GM, Vergouwe MN, van Eijk R, Oefner PJ, Hoffman SMG, Lamerdin JE, Mohrenweiser HW, Bulman DE, Ferrari M, Haan J, Lindhout D, van Ommen GB, Hofker MH, Ferrari MD, Frants RR. (1996) Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell 87: 543-552.
78. Pardo LA, Heinemann SH, Terlau H, Ludewig U, Lorra C, Pongs O, Stuhmer W. (1992) Extracellular K+ specifically modulates a rat brain K+ channel. Proc. Natl. Acad. Sci. USA 89: 2466-2470.
79. Pessia M (2004) Ion Channels and Electrical Activity. In: Wayne Davies R, Morris BJ (eds) Molecular Biology of the Neuron, Oxford University Press, pp 103-37.
80. Pessia M, Hanna M (2010) Episodic Ataxia type 1. In GeneReviews [Internet], ed. Pagon RA, Bird TC, Dolan CR, Stephens K. University of Washington, Seattle; 2010.
81. Poliak S, Gollan L, Martinez R, Custer A, Einheber S, Salzer JL, Trimmer JS, Shrager P, Peles E. (1999) Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels. Neuron 24: 1037-1047.
82. Rainier S, Thomas D, Tokarz D, Ming L, Bui M, Plein E, Zhao X, Lemons R, Albin R, Delaney C, Alvarado D, Fink JK. Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis. Arch. Neurol. 2004; 61: 1025-9.
83. Rajakulendran S, Schorge S, Kullmann DM, Hanna MG (2007) Episodic ataxia type 1: a neuronal potassium channelopathy. Neurotherapeutics 2:258-66.
84. Rea R, Spauschus A, Eunson LH, Hanna MG, Kullmann DM. (2002) Variable K(+) channel subunit dysfunction in inherited mutations of KCNA1. J. Physiol. 538: 5-23.
85. Retting J, Heinemann SH, Wunder F, Lorra C, Parcej DN, Dolly JO, Pongs O. (1994) Inactivation properties of voltage-gated K+ channels altered by presence of beta-subunit. Nature 369: 289-294.
86. Ruppersberg JP, Schroter KH, Sakmann B, Stocker M, Sewing S, Pongs O. (1990) Heteromultimeric channels formed by rat brain potassium-channel proteins. Nature 345: 535-537.
87. Sheng M, Tsaur ML, Jan YN, Jan LY. (1994) Contrasting subcellular localization of the Kv1.2 K+ channel subunit in different neurons of rat brain. J. Neurosci. 14: 2408-2417.
88. Schulte, U., Thumfart, J.O., Klocker, N., Sailer, C.A., Bildl, W., Biniossek, M., Dehn, D., Deller, T., Eble, S., Abbass, K., Wangler, T., Knaus, H.G. and Fakler, B. (2006) The epilepsy-linked lgi1 protein assembles into presynaptic kv1 channels and inhibits inactivation by kvbeta1. Neuron 49, 697-706.
89. Shook SJ, Mamsa H, Jen JC, Baloh RW, Zhou L (2008) Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea. Muscle Nerve 37:399-402.
90. Sicca F, Imbrici P, D'Adamo MC, Moro F, Bonatti F, Brovedani P, Grottesi A, Guerrini R, Masi G, Santorelli FM, Pessia M. (2011) Autism with seizures and intellectual disability: possible causative role of gain-of-function of the inwardly-rectifying K+ channel Kir4.1. Neurobiol. Dis. 43:239-47.
91. Smart SL, Lopantsev V, Zhang CL, Robbins CA, Wang H, Chiu SY, Schwartzkroin PA, Messing A, Tempel BL. (1998) Deletion of the Kv1.1 potassium channel causes epilepsy in mice. Neuron 20: 809-819.
92. Southan AP, Robertson B. (1998) Patch-clamp recordings form cerebellar basket cell bodies and their presynaptic terminals reveal an asymmetric distribution of voltage-gated potassium channels. J. Neurosci. 18: 948-955.
93. Spacey SD, Adams PJ, Lam PC, Materek LA, Stoessl AJ, Snutch TP, Hsiung GY. (2006) Genetic heterogeneity in paroxysmal nonkinesigenic dyskinesia. Neurology.; 66: 1588-90.
94. Steckley JL, Ebers GC, Cader MZ, McLachlan RS (2001) An autosomal dominant disorder with episodic ataxia, vertigo, and tinnitus. Neurology 57:1499-502.
95. Strauss KA, Puffenberger EG, Huentelman MJ, Gottlieb S, Dobrin SE, Parod JM, Stephan DA, Morton DH. (2006) Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. N. Engl. J. Med. 30;354(13):1370-7.
96. Stuhmer W, Ruppersberg JP, Schroter KH, Sakmann B, Stocker M, Giese KP, Perschke A, Baumann A, Pongs O. (1989b) Molecular basis of functional diversity of voltage-gated potassium channels in mammalian brain. EMBO J. 8: 3235-3244.
97. Sumikawa K, Houghton M, Emtage JS, Richards BM, Barnard EA. (1981) Active multi-subunit ACh receptor assembled by translation of heterologous mRNA in Xenopus oocytes. Nature 292: 862-864.
98. Tanouye MA, Ferrus A. (1985) Action potentials in normal and Shaker mutant drosophila. J. Neurogenet. 2: 253-271.
99. Teh BT, Silburn P, Lindblad K, Betz R, Boyle R, Schalling M, Larsson C. (1995) Familial periodic cerebellar ataxia withouth myokymia maps to a 19-cM region on 19p13. Am. J. Hum. Genet. 56: 1443-1449.
100. Tempel BL, Papazian DM, Schwarz TL, Jan YN, Jan LY. (1987) Sequence of a probable potassium channel component encoded at Shaker locus of Drosophila. Science 237: 770-775.
101. Temple e Vacher 2008.
102. Timofeeva O, Nadler JV. (2006) Facilitation of granule cell epileptiform activity by mossy fiber-released zinc in the pilocarpine model of temporal lobe epilepsy. Brain Res. 17;1078(1):227-34.
103. Tomita H, Nagamitsu S, Wakui K, Fukushima Y, Yamada K, Sadamatsu M, Masui A, Konishi T, Matsuishi T, Aihara M, Shimizu K, Hashimoto K, Mineta M, Matsushima M, Tsujita T, Saito M, Tanaka H, Tsuji S, Takagi T, Nakamura Y, Nanko S, Kato N, Nakane Y, Niikawa N. Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1. Am. J. Hum. Genet. 1999; 65: 1688-97.
104. Tomlinson ES, Veronica Tan S, Kullmann DM, Griggs RC, Burke D, Hanna MG and Bostock H (2010). Nerve excitability studies characterize KV1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1. Brain 133, 3530-3540.
105. Trimmer JS, Rhodes KJ. Localization of voltage-gated ion channels in mammalian brain. Annu. Rev. Physiol. 66: 477-519, 2004.
106. Tsaur ML, Sheng M, Lowenstein DH, Jan YN, Jan LY. (1992) Differential expression of K+ channel mRNAs in the rat brain and down-regulation in the hippocampus following seizures. Neuron 8(6):1055-67.
107. Vabnick I, Trimmer JS, Schwarz TL, Levinson SR, Risal D and Shrager P (1999). Dynamic potassium channel distributions during axonal development prevent aberrant firing patterns. J. Neurosci. 19, 747-58.
108. Valente EM, Spacey SD, Wali GM, Bhatia KP, Dixon PH, Wood NW, Davis MB. A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16. Brain. 2000; 123(Pt 10): 2040-5.
109. VanDyke DH, Griggs RC, Murphy MJ, Goldstein MN. (1975) Hereditary myokymia and periodic ataxia. J. Neurol. Sci. 25: 109-118.
110. Vassilev PM, Scheuer T, Catterall WA. (1988) Identification of an intracellular peptide segment involved in sodium channel inactivation. Science 241: 1658-1661.
111. Vacher H, Mohapatra DP and Trimmer JS (2008). Localization and targeting of voltage-dependent ion channels in mammalian central neurons. Physiol. Rev. 88, 1407-47.
112. Vance JM, Pericak-Vance MA, Payne CS, et al (1984) Linkage and genetic analysis in adult onset periodic vestibulo-cerebellar ataxia: report of a new family. Am. J. Hum. Genet. 36:78S.
113. Von Brederlow B, Hahn AF, Koopman WJ, Ebers GC, Bulman DE. (1995) Mapping the gene for acetazolamide responsive hereditary paryoxysmal cerebellar ataxia to chromosome 19p. Hum. Mol. Genet. 4: 279-284.
114. Wang H, Kunkel DD, Martin TM, Schwartzkroin PA, Tempel BL. (1993) Heteromultimeric K+ channels in terminal and juxtaparanodal regions of neurons. Nature 365: 75-79.
115. Wang H, Kunkel DD, Schwartzkroin PA, Tempel BL. (1994) Localization of Kv1.1 and Kv1.2, two K+ channel proteins, to synaptic terminals, somata, and dendrites in the mouse brain. J. Neurosci. 14: 4588-4599.
116. Xu H, Mitchell CL. (1993) Chelation of zinc by diethyldithiocarbamate facilitates bursting induced by mixed antidromic plus orthodromic activation of mossy fibers in hippocampal slices. Brain Res. 8;624(1-2):162-70.
117. Zagotta WN, Hoshi T, Aldrich RW. (1990) Restoration of inactivation in mutants of Shaker potassium channels by a peptide derived from ShB. Science 250: 568-571.
118. Zerr P, Adelman JP, Maylie J. (1998b) Characterization of three episodic ataxia mutations in the human Kv1.1 potassium channel. FEBS Lett. 431: 461-464.
119. Zhou L, Messing A, Chiu SY (1999). Determinants of excitability at transition zones in Kv1.1-deficient myelinated nerves. J. Neurosci. 19: 5768-81.
120. Zhou L, Zhang CL, Messing A, Chiu SY (1998) Temperature-sensitive neuromuscular transmission in Kv1.1 null mice: role of potassium channels under the myelin sheath in young nerves. J. Neurosci. 18: 7200-7215.
121. Zhou L and Chiu SY (2001) Computer Model for Action Potential Propagation Through Branch Point in Myelinated Nerves. J. Neurophysiol. 85:197-210.
122. Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC. (1997) Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat. Genet. 15: 62-69.
123. Zuberi SM, Eunson LH, Spauschus A, De Silva R, Tolmie J, Wood NW, McWilliam RC, Stephenson JP, Kullmann DM, Hanna MG (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 122:817-25.