| 1 | GLRA1, GLRB, SLC6A5, STHE1, STHE3, STHE4
|
| Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay.
|
| Thomas RH, Chung SK, Wood SE, Cushion TD, Drew CJ, Hammond CL, Vanbellinghen JF, Mullins JG, Rees MI.
|
| Brain 136(Pt 10):3085-95. doi: 10.1093/brain/awt207. Epub 2013 Sep 11.
2013
|
| 2 | GLRA1, STHE1
|
| Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia.
|
| Chung SK, Vanbellinghen JF, Mullins JG, Robinson A, Hantke J, Hammond CL, Gilbert DF, Freilinger M, Ryan M, Kruer MC, Masri A, Gurses C, Ferrie C, Harvey K, Shiang R, Christodoulou J, Andermann F, Andermann E, Thomas RH, Harvey RJ, Lynch JW, Rees MI.
|
| J Neurosci 30(28):9612-20.
2010
|
| 3 | GLRA1
|
| Multifunctional basic motif in the glycine receptor intracellular domain induces subunit-specific sorting.
|
| Melzer N, Villmann C, Becker K, Harvey K, Harvey RJ, Vogel N, Kluck CJ, Kneussel M, Becker CM.
|
| J Biol Chem 285(6):3730-9. Epub 2009 Dec 3.
2010
|
| 4 | GLRA1, STHE1
|
| Recessive hyperekplexia mutations of the glycine receptor alpha1 subunit affect cell surface integration and stability.
|
| Villmann C, Oertel J, Melzer N, Becker CM.
|
| J Neurochem 111(3):837-47. Epub 2009 Sep 1.
2009
|
| 5 | GLRA1
|
| Ligand-specific conformational changes in the alpha1 glycine receptor ligand-binding domain.
|
| Pless SA, Lynch JW.
|
| J Biol Chem 284(23):15847-56. Epub 2009 Mar 13.
2009
|
| 6 | GLRA1, STHE1
|
| The novel hyperekplexia allele GLRA1(S267N) affects the ethanol site of the glycine receptor.
|
| Becker K, Breitinger HG, Humeny A, Meinck HM, Dietz B, Aksu F, Becker CM.
|
| Eur J Hum Genet 16(2):223-8. Epub 2007 Nov 28. 2008
|
| 7 | GLRA1, GLRB, GPHN, SLC6A5, STHE1, STHE2, STHE3, STHE4
|
| The genetics of hyperekplexia: more than startle!
|
| Harvey RJ, Topf M, Harvey K, Rees MI.
|
| Trends Genet 24(9):439-47. Epub 2008 Aug 15.
2008
|
| 8 | CEP104, GLRA1
|
| Overexpression and functional characterization of the extracellular domain of the human alpha1 glycine receptor.
|
| Liu Z, Ramanoudjame G, Liu D, Fox RO, Jayaraman V, Kurnikova M, Cascio M.
|
| Biochemistry 47(37):9803-10. Epub 2008 Aug 19. 2008
|
| 9 | GLRA1, STHE1
|
| A novel GLRA1 mutation in a recessive hyperekplexia pedigree.
|
| Forsyth RJ, Gika AD, Ginjaar I, Tijssen MA.
|
| Mov Disord 22(11):1643-5.
2007
|
| 10 | GLRA1
|
| Structure and dynamics of the second and third transmembrane domains of human glycine receptor.
|
| Ma D, Liu Z, Li L, Tang P, Xu Y.
|
| Biochemistry 44(24):8790-800. 2005
|
| 11 | GLRA1
|
| A recombinant glycine receptor fragment forms homo-oligomers distinct from its GABA(A) counterpart.
|
| Xue H, Shi H, Tsang SY, Zheng H, Savva CG, Sun J, Holzenburg A.
|
| J Mol Biol 312(5):915-20. 2001
|
| 12 | GLRA1,STHE1
|
| Compound heterozygosity and nonsense mutations in the alpha(1)-subunit of the inhibitory glycine receptor in hyperekplexia.
|
| Rees MI, Lewis TM, Vafa B, Ferrie C, Corry P, Muntoni F, Jungbluth H, Stephenson JB, Kerr M, Snell RG, Schofield PR, Owen MJ.
|
| Hum Genet 109(3):267-70. 2001
|
| 13 | GLRA1,STHE1
|
| Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating.
|
| Saul B, et al.
|
| J Neurosci 19(3):869-77. 1999
|
| 14 | GLRA1,STHE1
|
| Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations.
|
| Vergouwe MN, Tijssen MA, Peters AC, Wielaard R, Frants RR.
|
| Ann Neurol 46(4):634-8 1999
|
| 15 | GLRA1,STHE1
|
| Startle disease in an Italian family by mutation (K276E) : the alpha-subunit of the inhibiting glycine receptor.
|
| Seri M, et al.
|
| Hum Mutat 9 : 185-187. 1997
|
| 16 | GLRA1,STHE1
|
| A novel mutation (Gln266-His) in the alpha1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia.
|
| Milani N, et al.
|
| Am J Hum Genet 58 : 420-422. 1996
|
| 17 | GLRA1,STHE1
|
| A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors.
|
| Brune W, et al.
|
| Am J Hum Genet 58 : 989-997. 1996
|
| 18 | GLRA1,STHE1
|
| Analysis of GLRA1 in hereditary and sporadic hyperekplexia : a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis.
|
| Elmslie FV, et al.
|
| J Med Genet 33 : 435-436. 1996
|
| 19 | GLRA1, STHE1
|
| A novel mutation (Gln266-->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia.
|
| Milani N, Dalpra L, del Prete A, Zanini R, Larizza L.
|
| Am J Hum Genet 58(2):420-2. No abstract available. 1996
|
| 20 | GLRA1,STHE1
|
| Mutational analysis of familial and sporadic hyperekplexia.
|
| Shiang R, et al.
|
| Ann Neurol 38 : 85-91. 1995
|
| 21 | GLRA1,STHE1
|
| A missense mutation in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor in the spasmodic mouse.
|
| Ryan SG, et al.
|
| Nat Genet 7 : 131-135. 1994
|
| 22 | GLRA1,STHE1
|
| An additional family with Startle disease and a G1192A mutation at the alpha 1 subunit of the inhibitory glycine receptor gene.
|
| Schorderet DF, et al.
|
| Hum Mol Genet 3 : 1201. 1994
|
| 23 | GLRA1
|
| Mutational and haplotype analysis of the alpha1 subunit of the glycine receptor in hyperekplexia patients. (abstr)
|
| Shiang R, et al.
|
| Am J Hum Genet 55 : A242. 1994
|
| 24 | GLRA1,STHE1
|
| Evidence for recessive as well as dominant forms of Startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor.
|
| Rees MI, et al.
|
| Hum Mol Genet 3 : 2175-2179. 1994
|
| 25 | GLRA1, STHE1
|
| A frameshift mutation in the mouse alpha 1 glycine receptor gene (Glra1) results in progressive neurological symptoms and juvenile death.
|
| Buckwalter MS, Cook SA, Davisson MT, White WF, Camper SA.
|
| Hum Mol Genet 3(11):2025-30. 1994
|
| 26 | GLRA1, STHE1, GRIA1
|
| Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia.
|
| Shiang R, Ryan SG, Zhu YZ, Hahn AF, O'Connell P, Wasmuth JJ.
|
| Nat Genet 5(4):351-8. 1993
|