Functional characterization of an episodic ataxia type-1 mutation occurring in the S1 segment of hKv1.1 channels

Pflugers Archiv European Journal of Physiology

Volumn 446, Issue 3, 2003, Pages 373-379

  Imbrici, Paola ^a   Cusimano, Antonella ^a   D'Adamo, Maria Cristina ^a   De Curtis, Amalia ^a   Pessia, Mauro ^a  

^a MARIO NEGRI INSTITUTE FOR PHARMACOLOGICAL RESEARCH   (Italy)

Author keywords

Episodic ataxia type 1; I177N mutation; Kv 1.1; Potassium channels; S1 segment; Shaker like channels; Voltage dependent gating

Indexed keywords

VOLTAGE GATED POTASSIUM CHANNEL;

ANIMAL CELL; ATAXIA; AUTOSOMAL DOMINANT DISORDER; CHANNEL GATING; CONFERENCE PAPER; CONTROLLED STUDY; DEPOLARIZATION; EPISODIC ATAXIA TYPE 1 SYNDROME; GAIT DISORDER; GENE; GENE MUTATION; KV1.1 GENE; MISSENSE MUTATION; MYOKYMIA; NEUROTRANSMISSION; NONHUMAN; OOCYTE; PATCH CLAMP; PRIORITY JOURNAL; PROTEIN EXPRESSION; SKELETAL MUSCLE; SPASTICITY; SYNDROME DELINEATION; VOLTAGE CLAMP; XENOPUS LAEVIS;

EID: 0038726473     PISSN: 00316768     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00424-002-0962-2     Document Type: Conference Paper

References (32)

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. Ashcroft FM (1999) Ion channels and disease. Academic Press, San Diego, Calif.
3. Babila T, Moscucci A, Wang H, Weaver FE, Koren G (1994) Assembly of mammalian voltage-gated potassium channels: evidence for an important role of the first transmembrane segment. Neuron 12:615-626
4. Bezanilla F (2000) The voltage sensor in voltage-dependent ion channels. Physiol Rev 80:555-592
5. Browne DL, Gancher ST, Nutt JG, Brunt ERP, 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
6. Browne DL, Brunt ERP, Griggs RC, Nutt JG, Gancher ST, Smith EA, Litt M (1995) Identification of two new KCNA1 mutations in episodic ataxia/myokymia families. Hum Mol Genet 4:1671-1672
7. Colquhoun D, Sigworth FJ (1995) Fitting and statistical analysis of single-channel records. In: Sakmann B, Neher E (eds) Single-channel recording, 2nd edn. Plenum Press, New York, pp 483-587
8. Comu S, Giuliani M, Narayanan V (1996) Episodic ataxia and myokymia syndrome: a new mutation of potassium channel gene Kv1.1. Ann Neurol 40:684-687
9. 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
10. + channel function. FASEB J 13:1335-1345
11. D'Adamo MC, Imbrici P, Pessia M (2001) Episodic ataxias as ion channel diseases. In: Manto M, Pandolfo M (eds) The cerebellum and its disorders. Cambridge University Press, Cambridge, pp 562-572
12. Donnelly D, Overington JP, Ruffle SV, Nugent JH, Blundell TL (1993) Modeling alpha-helical transmembrane domains: the calculation and use of substitution tables for lipid-facing residues. Protein Sci 2:55-70
13. + channels in open, closed, and inactivated conformations. J Struct Biol 121:263-284
14. Hille B (2001) Ionic channels of excitable membranes, 3rd edn. Sinauer, Sunderland, Mass.
15. + channel. J Gen Physiol 115:51-58
16. Horn R (2000) A new twist in the saga of charge movement in voltage-dependent ion channels. Neuron 25:511-514
17. Kullmann DM, Rea R, Spauschus A, Jouvenceau A (2001) The inherited episodic ataxias: how well do we understand the disease mechanisms? Neuroscientist 7:80-88
18. + channel. J Gen Physiol 115:33-50
19. Litt M, Kramer P, Browne D, Gancher S, Brunt ERP, 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
20. 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
21. Mathur R, Zhou J, Babila T, Koren G (1999) Ile-177 and Ser-180 in the S1 segment are critically important in Kv1.1 channel function. J Biol Chem 274:11487-11493
22. + channel. J Gen Physiol 113:415-423
23. Rea R, Spauschus A, Eunson LH, Hanna MG, Kullmann DM (2002) Variable K(+) channel subunit dysfunction in inherited mutations of KCNA1. J Physiol (Lond) 538:5-23
24. Scheffer H, Brunt ERP, Mol GJJ, van der Vlies P, Stulp RP, Verlind E, Mantel G, Averyanov YN, Hofstra RMW, Buys CHCM (1998) Three novel KCNA1 mutations in episodic ataxia type I families. Hum Genet 102:464-466
25. Scheffer H, Brunt ERP, Mol GJJ, van der Vlies P, Stulp RP, Verlind E, Mantel G, Averyanov YN, Hofstra RMW, Buys CHCM (1998) Three novel KCNA1 mutations in episodic ataxia type I families. Hum Genet 102:713
26. + channel assembly. Neuron 11:67-76
27. Smart SL, Lopantsev V, Zhang CL, Robbins CA, Wang H, Chiu SY, Schwartzkroin PA, Messing A, Tempel BL (1998) Deletion of the K(v)1.1 potassium channel causes epilepsy in mice. Neuron 20:809-819
28. Yellen G (1998) The moving parts of voltage-gated ion channels. Q Rev Biophys 31:239-295
29. + channels. Neuron 27:423-425
30. Zerr P, Adelman JP, Maylie J (1998) Episodic ataxia mutations in Kv1.1 alter potassium channel function by dominant negative effects or haploinsufficiency. J Neurosci 18:2842-2848
31. Zhang CL, Messing A, Chiu SY (1999) Specific alteration of spontaneous GABAergic inhibition in cerebellar Purkinje cells in mice lacking the potassium channel Kv1. 1. J Neurosci 19:2852-2864
32. 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