Animal Models of Episodic Ataxia Type 1 (EA1)

Movement Disorders: Genetics and Models: Second Edition

Volumn , Issue , 2014, Pages 791-807

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

^a UNIVERSITY OF PERUGIA   (Italy)

^b Istituto Euro mediterraneo di Scienza e Tecnologia IEMEST   (Italy)

^c UNIVERSITY OF MALTA   (Malta)

Author keywords

Electromyography: EMG; Episodic ataxia type 1: EA1; Lateral gastrocnemius: LG; Voltage gated potassium channel: Kv

Indexed keywords

EID: 84925084100     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-0-12-405195-9.00051-2     Document Type: Chapter

References (65)

1. Adelman J.P., et al. Episodic ataxia results from voltage-dependent potassium channels with altered functions. Neuron 1995, 15:1449-1454.
2. Arroyo E.J., et al. Myelinating Schwann cells determine the internodal localization of Kv1.1, Kv1.2, Kvbeta2, and Caspr. J. Neurocytol. 1999, 28:333-347.
3. Begun R., Kullmann D.M. Altered presynaptic spike properties in cerebellar basket cells in a mouse model of episodic ataxia type 1. Soc. Neurosci. Abst. 2011, 447:15/E26.
4. Browne D.L., et al. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nat. Genet. 1994, 8:136-140.
5. Browne D.L., et al. Identification of two new KCNA1 mutations in episodic ataxia/myokymia families. Hum. Mol. Genet. 1995, 4:1671-1672.
6. Brunetti O., et al. Kv1.1 knock-in ataxic mice exhibit spontaneous myokymic activity exacerbated by fatigue, ischemia and low temperature. Neurobiol. Dis. 2012, 47(3):310-321.
7. Brunt E.R.P., van Weerden T.W. Familial paroxysmal kinesigenic ataxia and continuous myokymia. Brain 1990, 113:1361-1382.
8. Comu S., et al. Episodic ataxia and myokymia syndrome: a new mutation of potassium channel gene Kv1.1. Ann. Neurol. 1996, 40(4):684-687.
9. Cusimano A., et al. An episodic ataxia type-1 mutation in the S1 segment sensitises the hKv1.1 potassium channel to extracellular Zn2+. FEBS Lett. 2004, 576:237-244.
10. D'Adamo M.C., et al. Episodic ataxia type-1 mutations in the hKv1.1 cytoplasmic pore region alter the gating properties of the channel. EMBO J. 1998, 17:1200-1207.
11. D'Adamo M.C., et al. Mutations in the KCNA1 gene associated with episodic ataxia type-1 syndrome impair heteromeric voltage-gated K+ channel function. FASEB J. 1999, 13:1335-1345.
12. D'Adamo M.C., et al. Episodic ataxia type 1. GeneReviews 2012, University of Washington, Seattle (WA), Internet. second ed. R.A. Pagon, T.C. Bird, C.R. Dolan, K. Stephens (Eds.).
13. Demos M.K., et al. A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction. Mov. Disord. 2009, 24:778-782.
14. Donahue L.R., et al. Megencephaly: a new mouse mutation on chromosome 6 that causes hypertrophy of the brain. Mamm. Genome 1996, 7:871-876.
15. Eunson L.H., et al. Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability. Ann. Neurol. 2000, 48:647-656.
16. Geiger J.R., Jonas P. Dynamic control of presynaptic Ca2+ inflow by fast-inactivating K+ channels in hippocampal mossy fiber boutons. Neuron 2000, 28:927-939.
17. Graves T.D., et al. Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins. Neurology 2010, 75:367-372.
18. Gutman G.A., Chandy K.G. Nomenclature of mammalian voltage-dependent potassium channel genes. Semin. Neurosci. 1993, 5:101-106.
19. Herson P.S., et al. A mouse model of episodic ataxia type-1. Nat. Neurosci. 2003, 6:378-383.
20. Imbrici P., et al. Functional characterization of an episodic ataxia type-1 mutation occurring in the S1 segment of hKv1.1 channels. Pflugers. Arch. EJP. 2003, 446:373-379.
21. Imbrici P., et al. Episodic ataxia type 1 mutations in the KCNA1 gene impair the fast inactivation properties of the human K+ channels Kv1.4-1.1/Kvβ1.1 and Kv1.4-1.1/Kvβ1.2. Eur. J. Neurosci. 2006, 24:3073-3083.
22. Imbrici P., et al. Episodic ataxia type 1 mutation F184C alters Zn2+-induced modulation of the human K+ channel Kv1.4-Kv1.1/Kvβ1.1. Am. J. Physiol. Cell. Physiol. 2007, 292:C778-C787.
23. Imbrici P., et al. A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1. Neuroscience 2008, 157:577-587.
24. Imbrici P., et al. Contributions of the central hydrophobic residue in the PXP motif of voltage-dependent K+ channels to S6 flexibility and gating properties. Channels (Austin) 2009, 3:39-45.
25. Imbrici P., et al. 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. 2011, 300(6):C1314-C1322.
26. Isacoff E.Y., et al. Evidence for the formation of heteromultimeric potassium channels in Xenopus oocytes. Nature 1990, 345:530-534.
27. Ishida S., et al. Kcna1-mutant rats dominantly display myokymia, neuromyotonia and spontaneous epileptic seizures. Brain Res. 2012, 30(1435):154-166.
28. Jan Y.N., et al. Two mutations of synaptic transmission in Drosophila. Proc. R. Soc. Lond. B Biol. Sci. 1977, 198:87-108.
29. Jiang Y., et al. X-ray structure of a voltage-dependent K+ channel. Nature 2003, 423:33-41.
30. Jiang Y., et al. The principle of gating charge movement in a voltage-dependent K+ channel. Nature 2003, 423:42-48.
31. Laube G., et al. 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. 1996, 42:51-61.
32. Lee H.Y., et al. The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway. Hum. Mol. Genet. 2004, 13:3161-3170.
33. Lev-Ram V., Ellisman M.H. Axonal activation-induced calcium transients in myelinating schwann cells, sources, and mechanisms. J. Neurosci. 1995, 4:2628-2637.
34. Litt M., et al. A gene for episodic ataxia/myokymia maps to chromosome 12p13. Am. J. Hum. Genet. 1994, 55:702-709.
35. Manganas L.N., et al. Episodic ataxia type-1 mutations in the Kv1.1 potassium channel display distinct folding and intracellular trafficking properties. J. Biol. Chem. 2001, 276:49427-49434.
36. McNamara N.M., et al. Prominent location of a K+ channel containing the alpha subunit Kv 1.2 in the basket cell nerve terminals of rat cerebellum. Neuroscience 1993, 57(4):1039-1045.
37. Pessia M. Ion channels and electrical activity. Molecular Biology of the Neuron 2004, 103-137. Oxford University Press, UK. second ed. R.W. Davies, B.J. Morris (Eds.).
38. Pessia M., et al. The neurobiology of episodic ataxia type 1: a shaker-like K+ channel disorder. Ataxia: Causes, Symptoms and Treatment 2012, 47-75. NOVA SCIENCE, New York USA. S.H. Hong (Ed.).
39. Petersson S., et al. The megencephaly mouse has disturbances in the insulin-like growth factor (IGF) system. Mol. Brain Res. 1999, 72:80-88.
40. Petersson S., et al. Expression of cholecystokinin, enkephalin, galanin and neuropeptide Y is dramatically changed in the brain of the megencephaly mouse. Neuroscience 2000, 100:297-317.
41. Petersson S., et al. Truncation of the Shaker-like voltage-gated potassium channel, Kv1.1, causes megencephaly. Eur. J. Neurosci. 2003, 18(12):3231-3240.
42. Poliak S., et al. Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels. Neuron 1999, 24:1037-1047.
43. Rea R., et al. Variable K+ channel subunit dysfunction in inherited mutations of KCNA1. J. Physiol. 2002, 538:5-23.
44. Rho J.M., et al. Developmental seizure susceptibility of Kv1.1 potassium channel knockout mice. Dev. Neurosci. 1999, 21:320-327.
45. Ruppersberg J.P., et al. Heteromultimeric channels formed by rat brain potassium-channel proteins. Nature 1990, 345:535-537.
46. Sheng M., et al. Contrasting subcellular localization of the Kv1.2 K+ channel subunit in different neurons of rat brain. J. Neurosci. 1994, 14:2408-2417.
47. Shook S.J., et al. Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea. Muscle Nerve 2008, 37:399-402.
48. Simeone T.A., et al. Loss of the Kv1.1 potassium channel promotes pathologic sharp waves and high frequency oscillations in in vitro hippocampal slices. Neurobiol. Dis. March 2, 2013, pii: S0969-9961(13) 00071-5.
49. Smart S.L., et al. Deletion of the Kv1.1 potassium channel causes epilepsy in mice. Neuron 1998, 20(4):809-819.
50. Southan A.P., Robertson B. Patch-clamp recordings form cerebellar basket cell bodies and their presynaptic terminals reveal an asymmetric distribution of voltage-gated potassium channels. J. Neurosci. 1998, 18:948-955.
51. Tanouye M.A., Ferrus A. Action potentials in normal and Shaker mutant drosophila. J. Neurogenet. 1985, 2:253-271.
52. Tempel B.L., et al. Sequence of a probable potassium channel component encoded at Shaker locus of Drosophila. Science 1987, 237:770-775.
53. Tomlinson S.E., et al. Nerve excitability studies characterize Kv1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1. Brain 2010, 133(Pt 12):3530-3540.
54. Trimmer J.S., Rhodes K.J. Localization of voltage-gated ion channels in mammalian brain. Annu. Rev. Physiol. 2004, 66:477-519.
55. Tsaur M.L., et al. Differential expression of K+ channel mRNAs in the rat brain and down-regulation in the hippocampus following seizures. Neuron 1992, 8:1055-1067.
56. Vacher H., et al. Localization and targeting of voltage-dependent ion channels in mammalian central neurons. Physiol. Rev. 2008, 88:1407-1447.
57. Van Dyke D.H., et al. Hereditary myokymia and periodic ataxia. J. Neurol. Sci. 1975, 25:109-118.
58. Wang H., et al. Heteromultimeric K+ channels in terminal and juxtaparanodal regions of neurons. Nature 1993, 365:75-79.
59. Wang H., et al. Localization of Kv1.1 and Kv1.2, two K+ channel proteins, to synaptic terminals, somata, and dendrites in the mouse brain. J. Neurosci. 1994, 14:4588-4599.
60. Zerr P., et al. Episodic ataxia mutations in Kv1.1 alter potassium channel function by dominant negative effects or haploinsufficiency. J. Neurosci. 1998, 18:2842-2848.
61. Zhang C.L., et al. Specific alteration of spontaneous GABAergic inhibition in cerebellar purkinje cells in mice lacking the potassium channel Kv1.1. J. Neurosci. 1999, 19(8):2852-2864.
62. Zhou L., et al. Temperature-sensitive neuromuscular transmission in Kv1.1 null mice: role of potassium channels under the myelin sheath in young nerves. J. Neurosci. 1998, 18:7200-7215.
63. Zhou L., et al. Determinants of excitability at transition zones in Kv1.1-deficient myelinated nerves. J. Neurosci. 1999, 19:5768-5781.
64. Zhou L., Chiu S.Y. Computer model for action potential propagation through branch point in myelinated nerves. J. Neurophysiol. 2001, 85:197-210.
65. Zuberi S.M., et al. 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 1999, 122:817-825.