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.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
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.
Links toward previous steps (curation, corpus...)
- to stream PascalFrancis, to step Corpus: 001299
- to stream PascalFrancis, to step Curation: 001A20
- to stream PascalFrancis, to step Checkpoint: 001224
Links to Exploration step
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><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Pediatrics, Epilepsy Center, Sanggye Paik Hospital, Inje University College of Medicine</s1><s2>Seoul</s2><s3>KOR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ></inist:fA14><country>Corée du Sud</country><placeName><settlement type="city">Séoul</settlement></placeName></affiliation></author><author><name sortKey="Su Jeong You" sort="Su Jeong You" uniqKey="Su Jeong You" last="Su Jeong You">SU JEONG YOU</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Pediatrics, Epilepsy Center, Sanggye Paik Hospital, Inje University College of Medicine</s1><s2>Seoul</s2><s3>KOR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ></inist:fA14><country>Corée du Sud</country><placeName><settlement type="city">Séoul</settlement></placeName></affiliation></author><author><name sortKey="Myung Jae Chey" sort="Myung Jae Chey" uniqKey="Myung Jae Chey" last="Myung Jae Chey">MYUNG JAE CHEY</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Pediatrics, Epilepsy Center, Sanggye Paik Hospital, Inje University College of Medicine</s1><s2>Seoul</s2><s3>KOR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ></inist:fA14><country>Corée du Sud</country><placeName><settlement type="city">Séoul</settlement></placeName></affiliation></author><author><name sortKey="Jong Sam Baik" sort="Jong Sam Baik" uniqKey="Jong Sam Baik" last="Jong Sam Baik">JONG SAM BAIK</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Neurology, Epilepsy Center, Sanggye Paik Hospital, Inje University College of Medicine</s1><s2>Seoul</s2><s3>KOR</s3><sZ>4 aut.</sZ></inist:fA14><country>Corée du Sud</country><placeName><settlement type="city">Séoul</settlement></placeName></affiliation></author><author><name sortKey="Kim, Jong Won" sort="Kim, Jong Won" uniqKey="Kim J" first="Jong-Won" last="Kim">Jong-Won Kim</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Laboratory Medicine and Genetics, Sungkyunkwan University School of Medicine, Samsung Medical Center</s1><s2>Seoul</s2><s3>KOR</s3><sZ>5 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>Corée du Sud</country><placeName><settlement type="city">Séoul</settlement></placeName></affiliation></author><author><name sortKey="Ki, Chang Seok" sort="Ki, Chang Seok" uniqKey="Ki C" first="Chang-Seok" last="Ki">Chang-Seok Ki</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Laboratory Medicine and Genetics, Sungkyunkwan University School of Medicine, Samsung Medical Center</s1><s2>Seoul</s2><s3>KOR</s3><sZ>5 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>Corée du Sud</country><placeName><settlement type="city">Séoul</settlement></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">08-0199372</idno><date when="2008">2008</date><idno type="stanalyst">PASCAL 08-0199372 INIST</idno><idno type="RBID">Pascal:08-0199372</idno><idno type="wicri:Area/PascalFrancis/Corpus">001299</idno><idno type="wicri:Area/PascalFrancis/Curation">001A20</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">001224</idno><idno type="wicri:doubleKey">0885-3185:2008:Kang H:identification:of:a</idno><idno type="wicri:Area/Main/Merge">003832</idno></publicationStmt><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><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Pediatrics, Epilepsy Center, Sanggye Paik Hospital, Inje University College of Medicine</s1><s2>Seoul</s2><s3>KOR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ></inist:fA14><country>Corée du Sud</country><placeName><settlement type="city">Séoul</settlement></placeName></affiliation></author><author><name sortKey="Su Jeong You" sort="Su Jeong You" uniqKey="Su Jeong You" last="Su Jeong You">SU JEONG YOU</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Pediatrics, Epilepsy Center, Sanggye Paik Hospital, Inje University College of Medicine</s1><s2>Seoul</s2><s3>KOR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ></inist:fA14><country>Corée du Sud</country><placeName><settlement type="city">Séoul</settlement></placeName></affiliation></author><author><name sortKey="Myung Jae Chey" sort="Myung Jae Chey" uniqKey="Myung Jae Chey" last="Myung Jae Chey">MYUNG JAE CHEY</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Pediatrics, Epilepsy Center, Sanggye Paik Hospital, Inje University College of Medicine</s1><s2>Seoul</s2><s3>KOR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ></inist:fA14><country>Corée du Sud</country><placeName><settlement type="city">Séoul</settlement></placeName></affiliation></author><author><name sortKey="Jong Sam Baik" sort="Jong Sam Baik" uniqKey="Jong Sam Baik" last="Jong Sam Baik">JONG SAM BAIK</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Neurology, Epilepsy Center, Sanggye Paik Hospital, Inje University College of Medicine</s1><s2>Seoul</s2><s3>KOR</s3><sZ>4 aut.</sZ></inist:fA14><country>Corée du Sud</country><placeName><settlement type="city">Séoul</settlement></placeName></affiliation></author><author><name sortKey="Kim, Jong Won" sort="Kim, Jong Won" uniqKey="Kim J" first="Jong-Won" last="Kim">Jong-Won Kim</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Laboratory Medicine and Genetics, Sungkyunkwan University School of Medicine, Samsung Medical Center</s1><s2>Seoul</s2><s3>KOR</s3><sZ>5 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>Corée du Sud</country><placeName><settlement type="city">Séoul</settlement></placeName></affiliation></author><author><name sortKey="Ki, Chang Seok" sort="Ki, Chang Seok" uniqKey="Ki C" first="Chang-Seok" last="Ki">Chang-Seok Ki</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Department of Laboratory Medicine and Genetics, Sungkyunkwan University School of Medicine, Samsung Medical Center</s1><s2>Seoul</s2><s3>KOR</s3><sZ>5 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>Corée du Sud</country><placeName><settlement type="city">Séoul</settlement></placeName></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2008">2008</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><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></keywords></textClass></profileDesc></teiHeader><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></country><settlement><li>Séoul</li></settlement></list><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></noRegion><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></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Merge
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 003832 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Merge/biblio.hfd -nk 003832 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Main
|étape= Merge
|type= RBID
|clé= Pascal:08-0199372
|texte= Identification of a De Novo Lys304Gln Mutation in the Glycine Receptor α-1 Subunit Gene in a Korean Infant with Hyperekplexia
}}
| This area was generated with Dilib version V0.6.23. |  |