Detection of new polymorphisms of the GLRA1 gene in hyperekplexia patients

被引:0
|
作者
Milani, N
Wietasch, K
Mülhardt, C
Dietz, B
Aksu, F
Reuter, K
Becker, CM
机构
[1] Univ Erlangen Nurnberg, Inst Biochem, D-91054 Erlangen, Germany
[2] Univ Witten Herdecke, Kinderklin Datteln, D-45711 Datteln, Germany
关键词
D O I
暂无
中图分类号
Q189 [神经科学];
学科分类号
071006 ;
摘要
15803
引用
收藏
页码:373 / 373
页数:1
相关论文
共 50 条
  • [21] Identification of a novel missense GLRA1 gene mutation in hyperekplexia: A case report
    Horváth E.
    Farkas K.
    Herczegfalvi A.
    Nagy N.
    Széll M.
    Journal of Medical Case Reports, 8 (1)
  • [22] A Novel GLRA1 Mutation Associated With An Atypical Hyperekplexia Phenotype
    Gregory, Mary L.
    Guzauskas, Greg F.
    Edgar, Terence S.
    Clarkson, Kate B.
    Srivastava, Anand K.
    Holden, Kenton R.
    JOURNAL OF CHILD NEUROLOGY, 2008, 23 (12) : 1433 - 1438
  • [23] Excessive Startle with Novel GLRA1 Mutations in 4 Chinese Patients and a Literature Review of GLRA1-Related Hyperekplexia
    Zhan, Feixia
    Zhang, Chao
    Wang, Shige
    Zhu, Zeyu
    Chen, Guang
    Zhao, Mingliang
    Cao, Li
    JOURNAL OF CLINICAL NEUROLOGY, 2020, 16 (02): : 230 - 236
  • [24] Novel missense mutation (Y279S) in the GLRA1 gene causing hyperekplexia
    Poon, WT
    Au, KM
    Chan, YW
    Chan, KY
    Chow, CB
    Tong, SF
    Lam, CW
    CLINICA CHIMICA ACTA, 2006, 364 (1-2) : 361 - 362
  • [25] Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families
    Sandra L. Gilbert
    Fatih Ozdag
    Umit H. Ulas
    William B. Dobyns
    Bruce T. Lahn
    Molecular Diagnosis, 2004, 8 (3) : 151 - 155
  • [26] Four Turkish families with hyperekplexia: A missense mutation and the exon 1-7 deletion in the GLRA1 gene
    Tezen, Didem
    Simsir, Gulsah
    cokar, Ozlem
    Demirbilek, Veysi
    Basak, A. Nazli
    Yapici, Zuhal
    PARKINSONISM & RELATED DISORDERS, 2022, 105 : 128 - 131
  • [27] 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
    JOURNAL OF MEDICAL GENETICS, 1996, 33 (05) : 435 - 436
  • [28] Novel Mutation of GLRA1 in Omani Families With Hyperekplexia and Mild Mental Retardation
    Al-Futaisi, Amna Mohammed
    Al-Kindi, Mohammed Nasser
    Al-Mawali, Al-Mundher
    Koul, Roshan Lal
    Al-Adawi, Samir
    Al-Yahyaee, Said Ali
    PEDIATRIC NEUROLOGY, 2012, 46 (02) : 89 - 93
  • [29] Magnetic resonance spectroscopy of cerebral cortex is normal in hereditary hyperekplexia due to mutations in the GLRA1 gene
    Tijssen, MAJ
    Brown, P
    MacManus, D
    McLean, MA
    Davie, C
    MOVEMENT DISORDERS, 2003, 18 (12) : 1538 - 1541
  • [30] A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors
    Brune, W
    Weber, RG
    Saul, B
    Doeberitz, MV
    GrondGinsbach, C
    Kellermann, K
    Meinck, HM
    Becker, CM
    AMERICAN JOURNAL OF HUMAN GENETICS, 1996, 58 (05) : 989 - 997