کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3038566 | 1184475 | 2006 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Two Japanese families with hyperekplexia who have a Arg271Gln mutation in the glycine receptor alpha 1 subunit gene
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب تکاملی
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چکیده انگلیسی
We report two Japanese patients from two families with hyperekplexia who have a Arg271Gln mutation in the glycine receptor alpha 1 subunit gene. The clinical course of both patients was typical for hyperekplexia, characterized by neonatal hypertonia and exaggerated startle response, and which improved gradually with age. One was associated with umbilical hernia and hip dislocation, diagnosed at 11 months, while the other was diagnosed at 1 month. Both showed positive head retraction reflex. Four Japanese families have been reported as having hyperekplexia including our cases, of which three have shown the same missense Arg271Gln mutation, most frequently found in patients from Northern Europe and the United States.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Brain and Development - Volume 28, Issue 4, May 2006, Pages 228-231
Journal: Brain and Development - Volume 28, Issue 4, May 2006, Pages 228-231
نویسندگان
Masahiko Kimura, Takeshi Taketani, Akiyoshi Horie, Hiroshi Isumi, Hitoshi Sejima, Seiji Yamaguchi,