Microchromosomal deletions involving <i>SCN1A</i> and adjacent genes in severe myoclonic epilepsy in infancy

• 資料種別: 記事
• タイトル: Microchromosomal deletions involving <i>SCN1A</i> and adjacent genes in severe myoclonic epilepsy in infancy
• 著者標目: Ji‐wen Wang; Hirokazu Kurahashi; Atsushi Ishii; Toshio Kojima; Masaharu Ohfu; Takahito Inoue; Atsushi Ogawa; Sawa Yasumoto; Hirokazu Oguni; Shigeo Kure; Tatsuya Fujii; Masatoshi Ito; Takehiko Okuno; Yukiyoshi Shirasaka; Jun Natsume; Aki Hasegawa; Akihiko Konagaya; Sunao Kaneko; Shinichi Hirose; https://orcid.org/0000-0001-6796-3790
• 出版年月日等: 2008-09
• 出版年（W3CDTF）: 2008-09
• タイトル（掲載誌）: Epilepsia
• 巻号年月日等（掲載誌）: 49 9
• 掲載巻: 49
• 掲載号: 9
• 掲載ページ: 1528-1534
• 掲載年月日（W3CDTF）: 2008-09
• ISSN（掲載誌）: 00139580
• 出版事項（掲載誌）: Wiley
• 件名標目: Male; Brain; Chromosome Mapping; Epilepsies, Myoclonic; Nerve Tissue Proteins; Exons; Introns; Sodium Channels; NAV1.1 Voltage-Gated Sodium Channel; Phenotype; Humans; Female; Chromosome Deletion; Child; In Situ Hybridization, Fluorescence
• 対象利用者: 一般
• 標準番号（その他）: PMID : 18479393
• DOI: 10.1111/j.1528-1167.2008.01609.x
• 作成日（W3CDTF）: 2008-05-08
• 著作権情報: http://onlinelibrary.wiley.com/termsAndConditions#vor
• 関連情報（URI）: https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1528-1167.2008.01609.x; https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1528-1167.2008.01609.x
• 参照: Somatic mosaic deletions involving <i>SCN1A</i> cause Dravet syndrome; https://cir.nii.ac.jp/crid/1360004229893175424; Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome; https://cir.nii.ac.jp/crid/1360285706999707264; Efficacy of antiepileptic drugs for the treatment of Dravet syndrome with different genotypes; https://cir.nii.ac.jp/crid/1360285706999870592; The developmental changes of Nav1.1 and Nav1.2 expression in the human hippocampus and temporal lobe; https://cir.nii.ac.jp/crid/1360285707000681344; <i>SCN1A</i> testing for epilepsy: Application in clinical practice; https://cir.nii.ac.jp/crid/1360285710488142080; Positive association between benign familial infantile convulsions and LGI4; https://cir.nii.ac.jp/crid/1360567181976418560; On the likelihood of SCN1A microdeletions or duplications in Dravet syndrome with missense mutation; https://cir.nii.ac.jp/crid/1360567181976461440; PCDH19 mutation in Japanese females with epilepsy; https://cir.nii.ac.jp/crid/1360567182088071296; Genetic testing in the epilepsies—Report of the ILAE Genetics Commission; https://cir.nii.ac.jp/crid/1360567185631411456; Genetics and gene therapy in Dravet syndrome; https://cir.nii.ac.jp/crid/1360576118787720960; Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy; https://cir.nii.ac.jp/crid/1360848657064794496; Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsies; https://cir.nii.ac.jp/crid/1360848658339962112; The Epilepsy Genetic Study Group Japan Individualized medicine for epilepsy-based on genetic information; https://cir.nii.ac.jp/crid/1390001205289816576
• 連携機関・データベース: 国立情報学研究所 : CiNii Research; https://cir.nii.ac.jp/
• 提供元機関・データベース: Crossref; https://www.crossref.org

• 要約等: <jats:title><jats:sc>Summary</jats:sc></jats:title><jats:p> <jats:bold> <jats:styled-content>Purpose:</jats:styled-content> Genetic abnorm...