GABAA Receptor Mutations Associated with Generalized Epilepsies1

Advances in Pharmacology

Volumn 54, Issue , 2006, Pages 147-169

  Macdonald, Robert L ^a,b   Kang, Jing Qiong ^a   Gallagher, Martin J ^a   Feng, Hua Jun ^a  

^a VANDERBILT UNIVERSITY   (United States)

^b VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 33846169784     PISSN: 10543589     EISSN: None     Source Type: Book Series    
DOI: 10.1016/S1054-3589(06)54007-4     Document Type: Review

References (45)

1. Amaral M.D. CFTR and chaperones: Processing and degradation. J. Mol. Neurosci. 23 (2004) 41-48
2. A receptor alpha 1 and alpha 4 subunit mRNA levels in thalamic relay nuclei following absence-like seizures in rats. Exp. Neurol. 154 (1998) 213-223
3. A receptors. Life Sci. 66 (2000) 1063-1070
4. A receptor dysfunction in epilepsy: A mutation in the gamma2-subunit gene. Nat. Genet. 28 (2001) 46-48
5. Baumann S.W., Baur R., and Sigel E. Subunit arrangement of gamma-aminobutyric acid type a receptors. J. Biol. Chem. 276 (2001) 36275-36280
6. A receptors: Insight into the absolute arrangement. J. Biol. Chem. 277 (2002) 46020-46025
7. A receptors: Insight into the absolute arrangement. J. Biol. Chem. 277 (2002) 46020-46025
8. A receptor mutations linked to epilepsy in humans. J. Neurosci. 22 (2002) 5321-5327
9. A receptor subunit mutation [gamma 2(R43Q)] found in human epilepsy. Proc. Natl. Acad. Sci. USA 99 (2002) 15170-15175
10. Brejc K., van Dijk W.J., Klaassen R.V., Schuurmans M., van Der O.J., Smit A.B., and Sixma T.K. Crystal structure of an ACh-binding protein reveals the ligand-binding domain of nicotinic receptors. Nature 411 (2001) 269-276
11. Campos-Caro A., Sala S., Ballesta J.J., Vicente-Agullo F., Criado M., and Sala F. A single residue in the M2-M3 loop is a major determinant of coupling between binding and gating in neuronal nicotinic receptors. Proc. Natl. Acad. Sci. USA 93 (1996) 6118-6123
12. A receptor. J. Neurosci. 16 (1996) 5415-5424
13. A receptors in epileptic hippocampus: Enhanced synaptic efficacy and altered pharmacology. Eur. J. Neurosci. 17 (2003) 1607-1616
14. Cossette P., Liu L., Brisebois K., Dong H., Lortie A., Vanasse M., Saint-Hilaire J.M., Carmant L., Verner A., Lu W.Y., Wang Y.T., and Rouleau G.A. Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nat. Genet. 31 (2002) 184-189
15. A receptors is a susceptibility locus for generalized epilepsies. Hum. Mol. Genet. 13 (2004) 1315-1319
16. Evans M.S., Viola-McCabe K.E., Caspary D.M., and Faingold C.L. Loss of synaptic inhibition during repetitive stimulation in genetically epilepsy-prone rats (GEPR). Epilepsy Res. 18 (1994) 97-105
17. Feng H.J., Naritoku D.K., Randall M.E., and Faingold C.L. Modulation of audiogenically kindled seizures by gamma-aminobutyric acid-related mechanisms in the amygdala. Exp. Neurol. 172 (2001) 477-481
18. A receptor δ subunit for human generalized epilepsies have defective channel gating. Epilepsia 45 Suppl. 7 (2004) 11
19. A receptor alpha1 subunit linked to human epilepsy affects channel gating properties. Neuropharmacology 46 (2004) 629-637
20. A receptor alpha1 subunit mutation A322D producesasymmetrical, subunit position-dependent reduction. J. Neurosci. 24 (2004) 5570-5578
21. A receptor epilepsy mutation that inserts an aspartate in the M3 transmembrane segment of the alpha 1 subunit. J. Biol. Chem. 280 (2005) 37995-38004
22. A receptor currents in mouse fibroblasts. J. Physiol. 514 Pt. 1 (1999) 27-45
23. A-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. Am. J. Hum. Genet. 70 (2002) 530-536
24. Hinkle D.J., Bianchi M.T., and Macdonald R.L. Modifications of a commercial perfusion system for use in ultrafast solution exchange during patch clamp recording. Biotechniques 35 (2003) 472-474 476
25. Hirose S., Fukuma G., Kanaumi T., Ueno S., Ishii A., Haga Y., Hamachi A., Yonetan M., Itho M., Takashima S., Kaneko S., and Mitsudome A. Severe myoclonic epilepsy in infancy (SMEI) resulting from SCN1A and GABRG2 mutations inherited from non SMEI parents. Am. J. Hum. Genet (2004) Supplement
26. Hirose S., Mitsudome A., Okada M., and Kaneko S. Genetics of idiopathic epilepsies. Epilepsia 46 Suppl. 1 (2005) 38-43
27. A channel responses to brief agonist pulses. Neuron 15 (1995) 181-191
28. Kananura C., Haug K., Sander T., Runge U., Gu W., Hallmann K., Rebstock J., Heils A., and Steinlein O.K. A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions. Arch. Neurol. 59 (2002) 1137-1141
29. A receptor gamma2 subunit R43Q mutation linked to childhood absence epilepsy and febrile seizures causes retention of alpha1beta2gamma2s receptors in the endoplasmic reticulum. J. Neurosci. 24 (2004) 8672-8677
30. A receptors. J. Neurosci. 17 (1997) 7532-7540
31. A receptor gamma2 subunit induces limbic status epilepticus. J. Neurosci. Res. 54 (1998) 863-869
32. A receptor. Nature 421 (2003) 272-275
33. A receptor assembly: Identification and structure of gamma(2) sequences forming the intersubunit contacts with alpha(1) and beta(3) subunits. J. Biol. Chem. 275 (2000) 8921-8928
34. A receptor assembly intermediates. J. Biol. Chem. 276 (2001) 16024-16032
35. A receptor assembly and stoichiometry. J. Neurosci. 21 (2001) 9124-9133
36. Krampfl K., Maljevic S., Cossette P., Ziegler E., Rouleau G.A., Lerche H., and Bufler J. Molecular analysis of the A322D mutation in the GABA receptor alpha-subunit causing juvenile myoclonic epilepsy. Eur. J. Neurosci. 22 (2005) 10-20
37. Lejeune F., and Maquat L.E. Mechanistic links between nonsense-mediated mRNA decay and pre-mRNA splicing in mammalian cells. Curr. Opinion in Cell Biol. 17 (2005) 309-315
38. Lynch J.W., Rajendra S., Pierce K.D., Handford C.A., Barry P.H., and Schofield P.R. Identification of intracellular and extracellular domains mediating signal transduction in the inhibitory glycine receptor chloride channel. EMBO J. 16 (1997) 110-120
39. Maquat L.E. Nonsense-mediated mRNA decay: Splicing, translation and mRNP dynamics. Nature Reviews 5 (2004) 89-99
40. Miyazawa A., Fujiyoshi Y., and Unwin N. Structure and gating mechanism of the acetylcholine receptor pore. Nature 424 (2003) 949-955
41. Mulley J.C., Scheffer I.E., Petrou S., and Berkovic S.F. Channelopathies as a genetic cause of epilepsy. Curr. Opin. Neurol. 16 (2003) 171-176
42. A receptor subunits in seizure-prone and seizure-resistant rat models of temporal lobe epilepsy. J. Neurosci. 19 (1999) 4654-4661
43. Smit A.B., Syed N.I., Schaap D., van Minnen J., Klumperman J., Kits K.S., Lodder H., van der Schors R.C., van Elk R., Sorgedrager B., Brejc K., Sixma T.K., et al. A glia-derived acetylcholine-binding protein that modulates synaptic transmission. Nature 411 (2001) 261-268
44. A receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nat. Genet. 28 (2001) 49-52
45. Wang J.M., Zhang L., Yao Y., Viroonchatapan N., Rothe E., and Wang Z.Z. A transmembrane motif governs the surface trafficking of nicotinic acetylcholine receptors. Nat. Neurosci. 5 (2002) 963-970