De novo homozygous variant of the SCN1A gene in a patient with severe Dravet syndrome complicated by acute encephalopathy.
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| Title: | De novo homozygous variant of the SCN1A gene in a patient with severe Dravet syndrome complicated by acute encephalopathy. |
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| Authors: | Van LTK; Neurology Department, Children Hospital 2, Ho Chi Minh City, 70000, Vietnam., Hien HTD; Research Center for Genetics and Reproductive Health, School of Medicine, Vietnam National University HCMC, Ho Chi Minh City, 70000, Vietnam., Kieu HTT; Neurology Department, Children Hospital 2, Ho Chi Minh City, 70000, Vietnam., Hieu NLT; Neurology Department, Children Hospital 2, Ho Chi Minh City, 70000, Vietnam., Vinh LS; University of Engineering and Technology, Vietnam National University Hanoi, Hanoi, 10000, Vietnam., Hoa G; Medical Genetics Institute, Ho Chi Minh City, 70000, Vietnam., Hang DTT; Research Center for Genetics and Reproductive Health, School of Medicine, Vietnam National University HCMC, Ho Chi Minh City, 70000, Vietnam. dtthang@medvnu.edu.vn. |
| Source: | Neurogenetics [Neurogenetics] 2021 May; Vol. 22 (2), pp. 133-136. Date of Electronic Publication: 2021 Mar 05. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1364-6753 (Electronic) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 33674996 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: De novo homozygous variant of the SCN1A gene in a patient with severe Dravet syndrome complicated by acute encephalopathy. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Van+LTK%22">Van LTK</searchLink>; Neurology Department, Children Hospital 2, Ho Chi Minh City, 70000, Vietnam.<br /><searchLink fieldCode="AU" term="%22Hien+HTD%22">Hien HTD</searchLink>; Research Center for Genetics and Reproductive Health, School of Medicine, Vietnam National University HCMC, Ho Chi Minh City, 70000, Vietnam.<br /><searchLink fieldCode="AU" term="%22Kieu+HTT%22">Kieu HTT</searchLink>; Neurology Department, Children Hospital 2, Ho Chi Minh City, 70000, Vietnam.<br /><searchLink fieldCode="AU" term="%22Hieu+NLT%22">Hieu NLT</searchLink>; Neurology Department, Children Hospital 2, Ho Chi Minh City, 70000, Vietnam.<br /><searchLink fieldCode="AU" term="%22Vinh+LS%22">Vinh LS</searchLink>; University of Engineering and Technology, Vietnam National University Hanoi, Hanoi, 10000, Vietnam.<br /><searchLink fieldCode="AU" term="%22Hoa+G%22">Hoa G</searchLink>; Medical Genetics Institute, Ho Chi Minh City, 70000, Vietnam.<br /><searchLink fieldCode="AU" term="%22Hang+DTT%22">Hang DTT</searchLink>; Research Center for Genetics and Reproductive Health, School of Medicine, Vietnam National University HCMC, Ho Chi Minh City, 70000, Vietnam. dtthang@medvnu.edu.vn. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229709714%22">Neurogenetics</searchLink> [Neurogenetics] 2021 May; Vol. 22 (2), pp. 133-136. <i>Date of Electronic Publication: </i>2021 Mar 05. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer-Verlag%22">Springer-Verlag </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9709714 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1364-6753 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2213646745%22">13646745 </searchLink><i>NLM ISO Abbreviation: </i>Neurogenetics <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=33674996 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1007/s10048-021-00636-7 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 133 Titles: – TitleFull: De novo homozygous variant of the SCN1A gene in a patient with severe Dravet syndrome complicated by acute encephalopathy. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Van LTK – PersonEntity: Name: NameFull: Hien HTD – PersonEntity: Name: NameFull: Kieu HTT – PersonEntity: Name: NameFull: Hieu NLT – PersonEntity: Name: NameFull: Vinh LS – PersonEntity: Name: NameFull: Hoa G – PersonEntity: Name: NameFull: Hang DTT IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 05 Text: 2021 May Type: published Y: 2021 Identifiers: – Type: issn-electronic Value: 1364-6753 Numbering: – Type: volume Value: 22 – Type: issue Value: 2 Titles: – TitleFull: Neurogenetics Type: main |
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