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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| ISSN: | 2073-4425 |
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| DOI: | 10.3390/genes17050565 |
