Two novel mutations of the glycine receptor gene in a Taiwanese hyperekplexia family

C. H. Tsai; F. C. Chang; Y. C. Su; F. J. Tsai; M. K. Lu; C. C. Lee; C. C. Kuo; Y. W. Yang; C. S. Lu

doi:10.1212/01.WNL.0000138566.65519.67

Two novel mutations of the glycine receptor gene in a Taiwanese hyperekplexia family

C. H. Tsai^*, F. C. Chang, Y. C. Su, F. J. Tsai, M. K. Lu, C. C. Lee, C. C. Kuo, Y. W. Yang, C. S. Lu

^*此作品的通信作者

研究成果: 期刊稿件 › 文章 › 同行評審

30 引文斯高帕斯（Scopus）

摘要

The authors report a Taiwanese family with autosomal recessive hyperekplexia. Two novel mutations, W96C (from the paternal allele) and R344X (from the maternal allele), which are located in exon 4 and exon 7 of the GLRA1 gene, were identified in this family. A series of electrophysiologic investigations were conducted in one of the probands, and the results suggest that the "startle center" is located subcortically.

原文	英語
頁（從 - 到）	893-896
頁數	4
期刊	Neurology
卷	63
發行號	5
DOIs	https://doi.org/10.1212/01.WNL.0000138566.65519.67
出版狀態	已出版 - 14 09 2004
對外發佈	是

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abstract = "The authors report a Taiwanese family with autosomal recessive hyperekplexia. Two novel mutations, W96C (from the paternal allele) and R344X (from the maternal allele), which are located in exon 4 and exon 7 of the GLRA1 gene, were identified in this family. A series of electrophysiologic investigations were conducted in one of the probands, and the results suggest that the {"}startle center{"} is located subcortically.",

author = "Tsai, {C. H.} and Chang, {F. C.} and Su, {Y. C.} and Tsai, {F. J.} and Lu, {M. K.} and Lee, {C. C.} and Kuo, {C. C.} and Yang, {Y. W.} and Lu, {C. S.}",

year = "2004",

month = sep,

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doi = "10.1212/01.WNL.0000138566.65519.67",

language = "英语",

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T1 - Two novel mutations of the glycine receptor gene in a Taiwanese hyperekplexia family

AU - Tsai, C. H.

AU - Chang, F. C.

AU - Su, Y. C.

AU - Tsai, F. J.

AU - Lu, M. K.

AU - Lee, C. C.

AU - Kuo, C. C.

AU - Yang, Y. W.

AU - Lu, C. S.

PY - 2004/9/14

Y1 - 2004/9/14

N2 - The authors report a Taiwanese family with autosomal recessive hyperekplexia. Two novel mutations, W96C (from the paternal allele) and R344X (from the maternal allele), which are located in exon 4 and exon 7 of the GLRA1 gene, were identified in this family. A series of electrophysiologic investigations were conducted in one of the probands, and the results suggest that the "startle center" is located subcortically.

AB - The authors report a Taiwanese family with autosomal recessive hyperekplexia. Two novel mutations, W96C (from the paternal allele) and R344X (from the maternal allele), which are located in exon 4 and exon 7 of the GLRA1 gene, were identified in this family. A series of electrophysiologic investigations were conducted in one of the probands, and the results suggest that the "startle center" is located subcortically.

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U2 - 10.1212/01.WNL.0000138566.65519.67

DO - 10.1212/01.WNL.0000138566.65519.67

M3 - 文章

C2 - 15365143

AN - SCOPUS:4644369714

SN - 0028-3878

VL - 63

SP - 893

EP - 896

JO - Neurology

JF - Neurology

IS - 5

ER -

Two novel mutations of the glycine receptor gene in a Taiwanese hyperekplexia family

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