Two Japanese families with hyperekplexia who have a Arg271Gln mutation in the glycine receptor alpha 1 subunit gene
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 improv...
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| Veröffentlicht in: | Brain & development (Tokyo. 1979) 2006-05, Vol.28 (4), p.228-231 |
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| container_title | Brain & development (Tokyo. 1979) |
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| creator | Kimura, Masahiko Taketani, Takeshi Horie, Akiyoshi Isumi, Hiroshi Sejima, Hitoshi Yamaguchi, Seiji |
| description | 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. |
| doi_str_mv | 10.1016/j.braindev.2005.08.007 |
| format | Article |
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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.</description><subject>Child, Preschool</subject><subject>DNA Mutational Analysis</subject><subject>Female</subject><subject>Genetic Predisposition to Disease - genetics</subject><subject>Glycine - metabolism</subject><subject>Glycine receptor alpha1 subunit gene</subject><subject>Hip Dislocation, Congenital - complications</subject><subject>Humans</subject><subject>Hyperekplexia</subject><subject>Infant</subject><subject>Japan</subject><subject>Muscle Hypertonia - genetics</subject><subject>Muscle Hypertonia - metabolism</subject><subject>Muscle Hypertonia - physiopathology</subject><subject>Muscle, Skeletal - innervation</subject><subject>Muscle, Skeletal - physiopathology</subject><subject>Mutation, Missense - genetics</subject><subject>Neural Inhibition - genetics</subject><subject>Pedigree</subject><subject>Receptors, Glycine - genetics</subject><subject>Reflex, Abnormal - genetics</subject><subject>Reflex, Startle - genetics</subject><subject>Synaptic Transmission - genetics</subject><subject>Syndrome</subject><issn>0387-7604</issn><issn>1872-7131</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2006</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkE1v1DAQhi0EotvCX6h84pYwdhLbe6OqoFBV4lLO1sSZbLzkC9vZZf89qXYRR05zed55Zx7GbgXkAoT6uM_rgH5s6JBLgCoHkwPoV2wjjJaZFoV4zTZQGJ1pBeUVu45xDwBCCnjLroQqtVFVsWHx-TjxR5xxpEi8xcH3niI_-tTx7jRToJ9zT7898mM38Q4PxJHfhZ3U4qEf-bAkTH4auR956ojv-pPzI_FAjuY0BY793CEXPC71MvrEdzTSO_amxT7S-8u8YT--fH6-_5o9fX_4dn_3lLlSbFMmpHGIlamlwUKSNuv1hsrCQFErqaTGrVJGg2qxrlqzBUQNpEzrEJq22RY37MN57xymXwvFZAcfHfX9-uy0RKu0rlQp9AqqM-jCFGOg1s7BDxhOVoB90W339q9u-6LbgrGr7jV4e2lY6oGaf7GL3xX4dAZo_fPgKdjoPI2OGr8qSraZ_P86_gDeiJT1</recordid><startdate>20060501</startdate><enddate>20060501</enddate><creator>Kimura, Masahiko</creator><creator>Taketani, Takeshi</creator><creator>Horie, Akiyoshi</creator><creator>Isumi, Hiroshi</creator><creator>Sejima, Hitoshi</creator><creator>Yamaguchi, Seiji</creator><general>Elsevier B.V</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>8BM</scope></search><sort><creationdate>20060501</creationdate><title>Two Japanese families with hyperekplexia who have a Arg271Gln mutation in the glycine receptor alpha 1 subunit gene</title><author>Kimura, Masahiko ; Taketani, Takeshi ; Horie, Akiyoshi ; Isumi, Hiroshi ; Sejima, Hitoshi ; Yamaguchi, Seiji</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c419t-128caa58b28a32e780128e43803b62627a9668706fab5f890aa70e68fca0dfd93</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2006</creationdate><topic>Child, Preschool</topic><topic>DNA Mutational Analysis</topic><topic>Female</topic><topic>Genetic Predisposition to Disease - genetics</topic><topic>Glycine - metabolism</topic><topic>Glycine receptor alpha1 subunit gene</topic><topic>Hip Dislocation, Congenital - complications</topic><topic>Humans</topic><topic>Hyperekplexia</topic><topic>Infant</topic><topic>Japan</topic><topic>Muscle Hypertonia - genetics</topic><topic>Muscle Hypertonia - metabolism</topic><topic>Muscle Hypertonia - physiopathology</topic><topic>Muscle, Skeletal - innervation</topic><topic>Muscle, Skeletal - physiopathology</topic><topic>Mutation, Missense - genetics</topic><topic>Neural Inhibition - genetics</topic><topic>Pedigree</topic><topic>Receptors, Glycine - genetics</topic><topic>Reflex, Abnormal - genetics</topic><topic>Reflex, Startle - genetics</topic><topic>Synaptic Transmission - genetics</topic><topic>Syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kimura, Masahiko</creatorcontrib><creatorcontrib>Taketani, Takeshi</creatorcontrib><creatorcontrib>Horie, Akiyoshi</creatorcontrib><creatorcontrib>Isumi, Hiroshi</creatorcontrib><creatorcontrib>Sejima, Hitoshi</creatorcontrib><creatorcontrib>Yamaguchi, Seiji</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>ComDisDome</collection><jtitle>Brain & development (Tokyo. 1979)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kimura, Masahiko</au><au>Taketani, Takeshi</au><au>Horie, Akiyoshi</au><au>Isumi, Hiroshi</au><au>Sejima, Hitoshi</au><au>Yamaguchi, Seiji</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Two Japanese families with hyperekplexia who have a Arg271Gln mutation in the glycine receptor alpha 1 subunit gene</atitle><jtitle>Brain & development (Tokyo. 1979)</jtitle><addtitle>Brain Dev</addtitle><date>2006-05-01</date><risdate>2006</risdate><volume>28</volume><issue>4</issue><spage>228</spage><epage>231</epage><pages>228-231</pages><issn>0387-7604</issn><eissn>1872-7131</eissn><abstract>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.</abstract><cop>Netherlands</cop><pub>Elsevier B.V</pub><pmid>16478653</pmid><doi>10.1016/j.braindev.2005.08.007</doi><tpages>4</tpages></addata></record> |
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| ispartof | Brain & development (Tokyo. 1979), 2006-05, Vol.28 (4), p.228-231 |
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| source | MEDLINE; ScienceDirect Journals (5 years ago - present) |
| subjects | Child, Preschool DNA Mutational Analysis Female Genetic Predisposition to Disease - genetics Glycine - metabolism Glycine receptor alpha1 subunit gene Hip Dislocation, Congenital - complications Humans Hyperekplexia Infant Japan Muscle Hypertonia - genetics Muscle Hypertonia - metabolism Muscle Hypertonia - physiopathology Muscle, Skeletal - innervation Muscle, Skeletal - physiopathology Mutation, Missense - genetics Neural Inhibition - genetics Pedigree Receptors, Glycine - genetics Reflex, Abnormal - genetics Reflex, Startle - genetics Synaptic Transmission - genetics Syndrome |
| title | Two Japanese families with hyperekplexia who have a Arg271Gln mutation in the glycine receptor alpha 1 subunit gene |
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