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

^*Corresponding author for this work

Research output: Contribution to journal › Journal Article › peer-review

30 Scopus citations

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.

Original language	English
Pages (from-to)	893-896
Number of pages	4
Journal	Neurology
Volume	63
Issue number	5
DOIs	https://doi.org/10.1212/01.WNL.0000138566.65519.67
State	Published - 14 09 2004
Externally published	Yes

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title = "Two novel mutations of the glycine receptor gene in a Taiwanese hyperekplexia family",

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,

day = "14",

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

language = "英语",

volume = "63",

pages = "893--896",

journal = "Neurology",

issn = "0028-3878",

publisher = "Lippincott Williams and Wilkins",

number = "5",

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TY - JOUR

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.

UR - https://www.scopus.com/pages/publications/4644369714

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

Abstract

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