Identification of a De Novo Lys304Gln Mutation in the Glycine Receptor α-1 Subunit Gene in a Korean Infant with Hyperekplexia
Identifieur interne : 003832 ( Main/Merge ); précédent : 003831; suivant : 003833Identification of a De Novo Lys304Gln Mutation in the Glycine Receptor α-1 Subunit Gene in a Korean Infant with Hyperekplexia
Auteurs : Hoon-Chul Kang [Corée du Sud] ; SU JEONG YOU [Corée du Sud] ; MYUNG JAE CHEY [Corée du Sud] ; JONG SAM BAIK [Corée du Sud] ; Jong-Won Kim [Corée du Sud] ; Chang-Seok Ki [Corée du Sud]Source :
- Movement disorders [ 0885-3185 ] ; 2008.
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- Pascal (Inist)
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Abstract
Startle disease or hyperekplexia (STHE; MIM 149400) is a rare disorder that is characterized by marked muscular hypertonia in infancy and an exaggerated startle response to unexpected acoustic or tactile stimuli. Mutations in the gene encoding the α-1 subunit of the inhibitory glycine receptor (GLRA1) were reported as causes of STHE. Recently, we encountered a Korean male infant with generalized stiffness that was observed from the first 3 days of life. The abnormal startle response was evident from the fourth week of life, and he showed marked improvement in the startle response and muscle hypertonia after being administered phenobarbital and clonazepam. Direct sequencing analysis of the infant and his parents revealed a de novo variation (c.910A>C) in the GLRA1 gene, resulting in a novel Lys304Gln missense mutation.
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Pascal:08-0199372Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Identification of a De Novo Lys304Gln Mutation in the Glycine Receptor α-1 Subunit Gene in a Korean Infant with Hyperekplexia</title>
<author><name sortKey="Kang, Hoon Chul" sort="Kang, Hoon Chul" uniqKey="Kang H" first="Hoon-Chul" last="Kang">Hoon-Chul Kang</name>
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<s2>Seoul</s2>
<s3>KOR</s3>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Identification of a De Novo Lys304Gln Mutation in the Glycine Receptor α-1 Subunit Gene in a Korean Infant with Hyperekplexia</title>
<author><name sortKey="Kang, Hoon Chul" sort="Kang, Hoon Chul" uniqKey="Kang H" first="Hoon-Chul" last="Kang">Hoon-Chul Kang</name>
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<author><name sortKey="Su Jeong You" sort="Su Jeong You" uniqKey="Su Jeong You" last="Su Jeong You">SU JEONG YOU</name>
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<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
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<imprint><date when="2008">2008</date>
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<seriesStmt><title level="j" type="main">Movement disorders</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>De novo</term>
<term>Glycine receptor</term>
<term>Hyperekplexia</term>
<term>Infant</term>
<term>Korean</term>
<term>Mutation</term>
<term>Nervous system diseases</term>
<term>Subunit</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Pathologie du système nerveux</term>
<term>De novo</term>
<term>Mutation</term>
<term>Récepteur glycine</term>
<term>Sousunité</term>
<term>Coréen</term>
<term>Nourrisson</term>
<term>Hyperekplexie</term>
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<front><div type="abstract" xml:lang="en">Startle disease or hyperekplexia (STHE; MIM 149400) is a rare disorder that is characterized by marked muscular hypertonia in infancy and an exaggerated startle response to unexpected acoustic or tactile stimuli. Mutations in the gene encoding the α-1 subunit of the inhibitory glycine receptor (GLRA1) were reported as causes of STHE. Recently, we encountered a Korean male infant with generalized stiffness that was observed from the first 3 days of life. The abnormal startle response was evident from the fourth week of life, and he showed marked improvement in the startle response and muscle hypertonia after being administered phenobarbital and clonazepam. Direct sequencing analysis of the infant and his parents revealed a de novo variation (c.910A>C) in the GLRA1 gene, resulting in a novel Lys304Gln missense mutation.</div>
</front>
</TEI>
<affiliations><list><country><li>Corée du Sud</li>
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<settlement><li>Séoul</li>
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<tree><country name="Corée du Sud"><noRegion><name sortKey="Kang, Hoon Chul" sort="Kang, Hoon Chul" uniqKey="Kang H" first="Hoon-Chul" last="Kang">Hoon-Chul Kang</name>
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<name sortKey="Jong Sam Baik" sort="Jong Sam Baik" uniqKey="Jong Sam Baik" last="Jong Sam Baik">JONG SAM BAIK</name>
<name sortKey="Ki, Chang Seok" sort="Ki, Chang Seok" uniqKey="Ki C" first="Chang-Seok" last="Ki">Chang-Seok Ki</name>
<name sortKey="Kim, Jong Won" sort="Kim, Jong Won" uniqKey="Kim J" first="Jong-Won" last="Kim">Jong-Won Kim</name>
<name sortKey="Myung Jae Chey" sort="Myung Jae Chey" uniqKey="Myung Jae Chey" last="Myung Jae Chey">MYUNG JAE CHEY</name>
<name sortKey="Su Jeong You" sort="Su Jeong You" uniqKey="Su Jeong You" last="Su Jeong You">SU JEONG YOU</name>
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