Identification and Functional Characterization of a Novel De Novo SATB1 Frameshift Variant in a Patient with Epilepsy-Dominant Neurodevelopmental Disorders.
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| Title: | Identification and Functional Characterization of a Novel De Novo SATB1 Frameshift Variant in a Patient with Epilepsy-Dominant Neurodevelopmental Disorders. |
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| Authors: | Xu M; McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences & School of Basic Medicine, Chinese Academy of Medical Sciences & Peking Union Medical College, No.5 Dongdan Santiao, Dongcheng District, Beijing 100005, China.; State Key Laboratory for Complex Severe and Rare Diseases, Institute of Basic Medical Sciences & School of Basic Medicine, Chinese Academy of Medical Sciences & Peking Union Medical College, No.5 Dongdan Santiao, Dongcheng District, Beijing 100005, China., Zhang R; McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences & School of Basic Medicine, Chinese Academy of Medical Sciences & Peking Union Medical College, No.5 Dongdan Santiao, Dongcheng District, Beijing 100005, China.; State Key Laboratory for Complex Severe and Rare Diseases, Institute of Basic Medical Sciences & School of Basic Medicine, Chinese Academy of Medical Sciences & Peking Union Medical College, No.5 Dongdan Santiao, Dongcheng District, Beijing 100005, China., Fan S; McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences & School of Basic Medicine, Chinese Academy of Medical Sciences & Peking Union Medical College, No.5 Dongdan Santiao, Dongcheng District, Beijing 100005, China.; State Key Laboratory for Complex Severe and Rare Diseases, Institute of Basic Medical Sciences & School of Basic Medicine, Chinese Academy of Medical Sciences & Peking Union Medical College, No.5 Dongdan Santiao, Dongcheng District, Beijing 100005, China., Sun M; McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences & School of Basic Medicine, Chinese Academy of Medical Sciences & Peking Union Medical College, No.5 Dongdan Santiao, Dongcheng District, Beijing 100005, China.; State Key Laboratory for Complex Severe and Rare Diseases, Institute of Basic Medical Sciences & School of Basic Medicine, Chinese Academy of Medical Sciences & Peking Union Medical College, No.5 Dongdan Santiao, Dongcheng District, Beijing 100005, China., Zhang X; McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences & School of Basic Medicine, Chinese Academy of Medical Sciences & Peking Union Medical College, No.5 Dongdan Santiao, Dongcheng District, Beijing 100005, China.; State Key Laboratory for Complex Severe and Rare Diseases, Institute of Basic Medical Sciences & School of Basic Medicine, Chinese Academy of Medical Sciences & Peking Union Medical College, No.5 Dongdan Santiao, Dongcheng District, Beijing 100005, China. |
| Source: | Genes [Genes (Basel)] 2026 May 15; Vol. 17 (5). Date of Electronic Publication: 2026 May 15. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 42195022 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Identification and Functional Characterization of a Novel De Novo SATB1 Frameshift Variant in a Patient with Epilepsy-Dominant Neurodevelopmental Disorders. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Xu+M%22">Xu M</searchLink>; McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences & School of Basic Medicine, Chinese Academy of Medical Sciences & Peking Union Medical College, No.5 Dongdan Santiao, Dongcheng District, Beijing 100005, China.; State Key Laboratory for Complex Severe and Rare Diseases, Institute of Basic Medical Sciences & School of Basic Medicine, Chinese Academy of Medical Sciences & Peking Union Medical College, No.5 Dongdan Santiao, Dongcheng District, Beijing 100005, China.<br /><searchLink fieldCode="AU" term="%22Zhang+R%22">Zhang R</searchLink>; McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences & School of Basic Medicine, Chinese Academy of Medical Sciences & Peking Union Medical College, No.5 Dongdan Santiao, Dongcheng District, Beijing 100005, China.; State Key Laboratory for Complex Severe and Rare Diseases, Institute of Basic Medical Sciences & School of Basic Medicine, Chinese Academy of Medical Sciences & Peking Union Medical College, No.5 Dongdan Santiao, Dongcheng District, Beijing 100005, China.<br /><searchLink fieldCode="AU" term="%22Fan+S%22">Fan S</searchLink>; McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences & School of Basic Medicine, Chinese Academy of Medical Sciences & Peking Union Medical College, No.5 Dongdan Santiao, Dongcheng District, Beijing 100005, China.; State Key Laboratory for Complex Severe and Rare Diseases, Institute of Basic Medical Sciences & School of Basic Medicine, Chinese Academy of Medical Sciences & Peking Union Medical College, No.5 Dongdan Santiao, Dongcheng District, Beijing 100005, China.<br /><searchLink fieldCode="AU" term="%22Sun+M%22">Sun M</searchLink>; McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences & School of Basic Medicine, Chinese Academy of Medical Sciences & Peking Union Medical College, No.5 Dongdan Santiao, Dongcheng District, Beijing 100005, China.; State Key Laboratory for Complex Severe and Rare Diseases, Institute of Basic Medical Sciences & School of Basic Medicine, Chinese Academy of Medical Sciences & Peking Union Medical College, No.5 Dongdan Santiao, Dongcheng District, Beijing 100005, China.<br /><searchLink fieldCode="AU" term="%22Zhang+X%22">Zhang X</searchLink>; McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences & School of Basic Medicine, Chinese Academy of Medical Sciences & Peking Union Medical College, No.5 Dongdan Santiao, Dongcheng District, Beijing 100005, China.; State Key Laboratory for Complex Severe and Rare Diseases, Institute of Basic Medical Sciences & School of Basic Medicine, Chinese Academy of Medical Sciences & Peking Union Medical College, No.5 Dongdan Santiao, Dongcheng District, Beijing 100005, China. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101551097%22">Genes</searchLink> [Genes (Basel)] 2026 May 15; Vol. 17 (5). <i>Date of Electronic Publication: </i>2026 May 15. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22MDPI%22">MDPI </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101551097 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2073-4425 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2220734425%22">20734425 </searchLink><i>NLM ISO Abbreviation: </i>Genes (Basel) <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=42195022 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.3390/genes17050565 Languages: – Code: eng Text: English Titles: – TitleFull: Identification and Functional Characterization of a Novel De Novo SATB1 Frameshift Variant in a Patient with Epilepsy-Dominant Neurodevelopmental Disorders. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Xu M – PersonEntity: Name: NameFull: Zhang R – PersonEntity: Name: NameFull: Fan S – PersonEntity: Name: NameFull: Sun M – PersonEntity: Name: NameFull: Zhang X IsPartOfRelationships: – BibEntity: Dates: – D: 15 M: 05 Text: 2026 May 15 Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 2073-4425 Numbering: – Type: volume Value: 17 – Type: issue Value: 5 Titles: – TitleFull: Genes Type: main |
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