Art

J-GLOBAL ID：201902274287535601   Reference number：19A1481954

Scn2a haploinsufficient mice display a spectrum of phenotypes affecting anxiety, sociability, memory flexibility and ampakine CX516 rescues their hyperactivity

SCN2Aハプロ不全マウスは不安,社会性,記憶柔軟性およびアンパカインCx516に影響する表現型のスペクトルを示す【JST・京大機械翻訳】

Author (12)： Tatsukawa Tetsuya (Laboratory for Neurogenetics, RIKEN Center for Brain Science, Wako, Japan) ,  Raveau Matthieu (Laboratory for Neurogenetics, RIKEN Center for Brain Science, Wako, Japan) ,  Ogiwara Ikuo (Laboratory for Neurogenetics, RIKEN Center for Brain Science, Wako, Japan) ,  Ogiwara Ikuo (Department of Physiology, Nippon Medical School, Tokyo, Japan) ,  Hattori Satoko (Division of Systems Medical Science, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake-shi, Japan) ,  Miyamoto Hiroyuki (Laboratory for Neurogenetics, RIKEN Center for Brain Science, Wako, Japan) ,  Mazaki Emi (Laboratory for Neurogenetics, RIKEN Center for Brain Science, Wako, Japan) ,  Itohara Shigeyoshi (Laboratory for Behavioral Genetics, RIKEN Center for Brain Science, Wako, Japan) ,  Itohara Shigeyoshi (FIRST, Japan Science and Technology Agency, Kawaguchi, Japan) ,  Miyakawa Tsuyoshi (Division of Systems Medical Science, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake-shi, Japan) ,  Montal Mauricio (Section of Neurobiology, Division of Biological Sciences, University of California San Diego, La Jolla, USA) ,  Yamakawa Kazuhiro (Laboratory for Neurogenetics, RIKEN Center for Brain Science, Wako, Japan)
Material： Molecular Autism (Web)
Volume： 10  Issue： 1  Page： 15  Publication year： 2019 
JST Material Number： U7526A  ISSN： 2040-2392  Document type： Article
Article type： 原著論文  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Abstract/Point： Mutations of the SCN2A gene en...

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Thesaurus term： causality ,  gene ,  inactivation ,  autism ,  *phenotype ,  epilepsy ,  telencephalon ,  neuron ,  intelligence disorder ,  mutation ,  knockout mouse ,  fear ,  schizophrenia ,  resident
Semi thesaurus term： 自閉症スペクトラム障害 , 【Automatic Indexing@JST】

Author keywords (4)： Scn2a ,  Autism ,  Schizophrenia ,  AMPA receptor

JST classification (2)： Genetic variation  (EC01030Y) ,  Central nervous system  (EJ12030F)

Reference (66)：

• Natl Health Stat Report; Estimated prevalence of autism and other developmental disabilities following questionnaire changes in the 2014 National Health Interview Survey; B Zablotsky, LI Black, MJ Maenner, LA Schieve, SJ Blumberg; 87; 2015; 1-20; citation_id=CR1
• Nature.; Prevalence and architecture of de novo mutations in developmental disorders; ; 542; 2017; 433-438; 10.1038/nature21062; citation_id=CR2
• Proc Natl Acad Sci U S A; A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction; T Sugawara, Y Tsurubuchi, KL Agarwala, M Ito, G Fukuma, E Mazaki-Miyazaki; 98; 2001; 6384-6389; 10.1073/pnas.111065098; citation_id=CR3
• Lancet.; Sodium-channel defects in benign familial neonatal-infantile seizures; SE Heron, KM Crossland, E Andermann, HA Phillips, AJ Hall, A Bleasel; 360; 2002; 851-852; 10.1016/S0140-6736(02)09968-3; citation_id=CR4
• J Neurosci; Effects in neocortical neurons of mutations of the Na(v)1.2 Na+ channel causing benign familial neonatal-infantile seizures; P Scalmani, R Rusconi, E Armatura, F Zara, G Avanzini, S Franceschetti; 26; 2006; 10100-10109; 10.1523/JNEUROSCI.2476-06.2006; citation_id=CR5

Terms in the title (5)： ハプロ不全 ,  マウス ,  社会 ,  表現型 ,  スペクトル