메뉴 건너뛰기




Volumn 18, Issue 12, 2003, Pages 1538-1541

Magnetic resonance spectroscopy of cerebral cortex is normal in hereditary hyperekplexia due to mutations in the GLRA1 gene

Author keywords

Hereditary; Hyperekplexia; MR spectroscopy

Indexed keywords

GLYCINE RECEPTOR; N ACETYLASPARTIC ACID; PROTEIN SUBUNIT;

EID: 0347031390     PISSN: 08853185     EISSN: None     Source Type: Journal    
DOI: 10.1002/mds.10613     Document Type: Article
Times cited : (2)

References (24)
  • 1
    • 0000069083 scopus 로고
    • Hyperexplexia, a hereditary startle syndrome
    • Suhren O, Bruyn GW, Tuynman A. Hyperexplexia, a hereditary startle syndrome. J Neurol Sci 1966;3:577-605.
    • (1966) J. Neurol. Sci. , vol.3 , pp. 577-605
    • Suhren, O.1    Bruyn, G.W.2    Tuynman, A.3
  • 4
    • 0019980517 scopus 로고
    • Hyperexplexia: An inherited disorder of the startle response
    • Morley DJ, Weaver DD, Garg BP, Markand O. Hyperexplexia: an inherited disorder of the startle response. Clin Genet 1982;21:388-396.
    • (1982) Clin. Genet. , vol.21 , pp. 388-396
    • Morley, D.J.1    Weaver, D.D.2    Garg, B.P.3    Markand, O.4
  • 5
    • 0026651547 scopus 로고
    • Startle disease, or hyperekplexia: Response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis
    • Ryan SG, Sherman SL, Terry JC, Sparkes RS, Torres MC, Mackey RW. Startle disease, or hyperekplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis. Ann Neurol 1992;38:663-668.
    • (1992) Ann. Neurol. , vol.38 , pp. 663-668
    • Ryan, S.G.1    Sherman, S.L.2    Terry, J.C.3    Sparkes, R.S.4    Torres, M.C.5    Mackey, R.W.6
  • 9
    • 0029960845 scopus 로고    scopus 로고
    • Analysis of GLRA1 in hereditary and sporadic hyperekplexia: A novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis
    • Elmslie FV, Hutchings SM, Spencer V, Curtis A, Covanis T, Gardiner RM, Rees M. Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis. J Med Genet 1996;33: 435-436.
    • (1996) J. Med. Genet. , vol.33 , pp. 435-436
    • Elmslie, F.V.1    Hutchings, S.M.2    Spencer, V.3    Curtis, A.4    Covanis, T.5    Gardiner, R.M.6    Rees, M.7
  • 10
    • 0030023318 scopus 로고    scopus 로고
    • A novel mutation (Gln266→His) in the α 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia
    • Milani N, Dalpra L, del Prete A, Zanini R, Larizza L. A novel mutation (Gln266→His) in the α 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia. Am J Hum Genet 1996;58:420-422.
    • (1996) Am. J. Hum. Genet. , vol.58 , pp. 420-422
    • Milani, N.1    Dalpra, L.2    del Prete, A.3    Zanini, R.4    Larizza, L.5
  • 11
    • 0033080914 scopus 로고    scopus 로고
    • Novel GLRA1 missense, mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating
    • Saul B, Kuner T, Sobetzko D, Brune W, Hanefeld F, Meinck HM, Becker CM. Novel GLRA1 missense, mutation (P250T) in dominant hyperekplexia defines an intracellular determinant of glycine receptor channel gating. J Neurosci 1999;19:869-877.
    • (1999) J. Neurosci. , vol.19 , pp. 869-877
    • Saul, B.1    Kuner, T.2    Sobetzko, D.3    Brune, W.4    Hanefeld, F.5    Meinck, H.M.6    Becker, C.M.7
  • 13
    • 0027330927 scopus 로고
    • Mutations in the α 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia
    • O'Connell P, Wasmuth JJ. Mutations in the α 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia. Nat Genet 1993;5:351-358.
    • (1993) Nat. Genet. , vol.5 , pp. 351-358
    • O'Connell, P.1    Wasmuth, J.J.2
  • 15
    • 0028580443 scopus 로고
    • Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the α 1 subunit of the inhibitory glycine receptor
    • Rees MI, Andrew M, Jawad S, Owen MJ. Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the α 1 subunit of the inhibitory glycine receptor. Hum Mol Genet 1994;3:2175-2179.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 2175-2179
    • Rees, M.I.1    Andrew, M.2    Jawad, S.3    Owen, M.J.4
  • 16
  • 18
    • 0026758875 scopus 로고
    • Physiological abnormalities in hereditary hyperekplexia
    • Matsumoto J, Fuhr P, Nigro M, Hallett M. Physiological abnormalities in hereditary hyperekplexia. Ann Neurol 1992;32:41-50.
    • (1992) Ann. Neurol. , vol.32 , pp. 41-50
    • Matsumoto, J.1    Fuhr, P.2    Nigro, M.3    Hallett, M.4
  • 21
    • 0021357407 scopus 로고
    • Familial startle disease (hyperexplexia). Electrophysiologic studies
    • Markand ON, Garg BP, Weaver DD. Familial startle disease (hyperexplexia). Electrophysiologic studies. Arch Neurol 1984;12: 71-74.
    • (1984) Arch. Neurol. , vol.12 , pp. 71-74
    • Markand, O.N.1    Garg, B.P.2    Weaver, D.D.3
  • 24
    • 0027375098 scopus 로고
    • Estimation of metabolite concentrations from localized in vivo proton NMR spectra
    • Provencher SW. Estimation of metabolite concentrations from localized in vivo proton NMR spectra. Magn Reson Med 1993;30: 672-679.
    • (1993) Magn. Reson. Med. , vol.30 , pp. 672-679
    • Provencher, S.W.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.