Clinical features and genetic analysis of children with hyperekplexia in Korea.
作者： Cha Gon Lee , Min-Jung Kwon , Hee Joon Yu , Sook Hyun Nam , Jeehun Lee
关键词: Pediatrics 、 Mutation 、 Audiology 、 Hypertonia 、 Global developmental delay 、 Genetic analysis 、 Psychology 、 Epilepsy 、 Exaggerated startle response 、 Hyperekplexia 、 Severity of illness
摘要: Hyperekplexia is a rare inherited neurologic disorder that characterized by hypertonia and an exaggerated startle response to sudden external stimuli. Until now, 5 genes are known be associated with hyperekplexia: GLRA1, SLC6A5, GLRB, GPHN, ARHGEF9. In this report, we performed clinical genetic analysis of 4 Korean children hyperekplexia. Two patients had typical manifestations hyperekplexia initially were misdiagnosed as epilepsy. Direct sequencing the GLRB GLRA1 revealed 2 novel mutations, c.298-1G>A c.1028C>T (p.S343F), in patient 1 mutation, c.895C>T (p.R299X), 2. The other familial cases, 3 4, exhibited responses, which appeared at age year, global developmental delay. Those showed negative results for genes.
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sci-hub.se 参考文章(21)
Athanasios Gaitatzis, Luke D. Kartsounis, Svetislav Gacinovic, Durval C. Costa, Kirsten Harvey, Robert J. Harvey, Rajith N. de Silva, Frontal lobe dysfunction in sporadic hyperekplexia--case study and literature review. Journal of Neurology. ,vol. 251, pp. 91- 98 ,(2004) , 10.1007/S00415-004-0288-4
L. Dalprá, L. Larizza, R. Zanini, A. del Prete, N. Milani, A novel mutation (Gln266-->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia. American Journal of Human Genetics. ,vol. 58, pp. 420- 422 ,(1996)
P. BROWN, J. C. ROTHWELL, P. D. THOMPSON, T. C. BRITTON, B. L. DAY, C. D. MARSDEN, The hyperekplexias and their relationship to the normal startle reflex. Brain. ,vol. 114, pp. 1903- 1928 ,(1991) , 10.1093/BRAIN/114.4.1903
Lan Zhou, Kipp L Chillag, Michael A Nigro, Hyperekplexia: a treatable neurogenetic disease Brain and Development. ,vol. 24, pp. 669- 674 ,(2002) , 10.1016/S0387-7604(02)00095-5
Robert J. Harvey, Maya Topf, Kirsten Harvey, Mark I. Rees, The genetics of hyperekplexia: more than startle! Trends in Genetics. ,vol. 24, pp. 439- 447 ,(2008) , 10.1016/J.TIG.2008.06.005
Joanna Grudzinska, Rudolf Schemm, Svenja Haeger, Annette Nicke, Guenther Schmalzing, Heinrich Betz, Bodo Laube, The β Subunit Determines the Ligand Binding Properties of Synaptic Glycine Receptors Neuron. ,vol. 45, pp. 727- 739 ,(2005) , 10.1016/J.NEURON.2005.01.028
Hoon-Chul Kang, Su Jeong You, Myung Jae Chey, Jong Sam Baik, Jong-Won Kim, Chang-Seok Ki, Identification of a de novo Lys304Gln mutation in the glycine receptor α-1 subunit gene in a Korean infant with hyperekplexia Movement Disorders. ,vol. 23, pp. 610- 613 ,(2008) , 10.1002/MDS.21909
Joseph W. Lynch, Molecular Structure and Function of the Glycine Receptor Chloride Channel Physiological Reviews. ,vol. 84, pp. 1051- 1095 ,(2004) , 10.1152/PHYSREV.00042.2003
Rita Shiang, Stephen G. Ryan, Ya-Zhen Zhu, Angelika F. Hahn, Peter O'Connell, John Jacob Wasmuth, Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia. Nature Genetics. ,vol. 5, pp. 351- 358 ,(1993) , 10.1038/NG1293-351
Gianpietro Sechi, Stefano Sotgiu, Maria P Valenti, Maria G Pitzolu, Paolo Peterlongo, Lidia Larizza, Giulio Rosati, Beneficial effect of fluoxetine in a case of sporadic hyperekplexia. Clinical Neuropharmacology. ,vol. 23, pp. 161- 163 ,(2000) , 10.1097/00002826-200005000-00006