Epilepsy due to potential loss of ATP6V1B2 function with mechanistic insight by a Drosophila Vha55 model.

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Title: Epilepsy due to potential loss of ATP6V1B2 function with mechanistic insight by a Drosophila Vha55 model.
Authors: Sheng W; Tianjin University Children's Hospital, Tianjin, China.; Tianjin Children's Hospital, Tianjin, China.; Tianjin Pediatric Research Institute, Tianjin Children's Hospital, Tianjin, China.; Clinical Pediatric College of Tianjin Medical University, Tianjin Medical University, Tianjin, China., Wang P; Tianjin Children's Hospital, Tianjin, China.; Tianjin Pediatric Research Institute, Tianjin Children's Hospital, Tianjin, China.; Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin, China., Cai Y; Tianjin University Children's Hospital, Tianjin, China.; Institute of Medical Engineering and Translational Medicine, Tianjin University, Tianjin, China., Zhai C; The State Key Laboratory of Medicinal Chemical Biology, Tianjin Key Laboratory of Protein Sciences, College of Life Sciences, Nankai University, Tianjin, China., Wang H; Tianjin Children's Hospital, Tianjin, China.; Department of Neuroloy, Tianjin Children's Hospital, Tianjin, China., Zhou F; Tianjin University Children's Hospital, Tianjin, China.; Tianjin Children's Hospital, Tianjin, China.; Tianjin Pediatric Research Institute, Tianjin Children's Hospital, Tianjin, China.; Clinical Pediatric College of Tianjin Medical University, Tianjin Medical University, Tianjin, China., Liu X; Tianjin University Children's Hospital, Tianjin, China.; Institute of Medical Engineering and Translational Medicine, Tianjin University, Tianjin, China., Wang L; Tianjin University Children's Hospital, Tianjin, China.; Tianjin Children's Hospital, Tianjin, China.; Tianjin Pediatric Research Institute, Tianjin Children's Hospital, Tianjin, China.; Clinical Pediatric College of Tianjin Medical University, Tianjin Medical University, Tianjin, China., Li D; Tianjin Children's Hospital, Tianjin, China.; Department of Neuroloy, Tianjin Children's Hospital, Tianjin, China., Shu J; Tianjin University Children's Hospital, Tianjin, China.; Tianjin Children's Hospital, Tianjin, China.; Tianjin Pediatric Research Institute, Tianjin Children's Hospital, Tianjin, China.; Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin, China., Cai C; Tianjin University Children's Hospital, Tianjin, China.; Tianjin Children's Hospital, Tianjin, China.; Tianjin Pediatric Research Institute, Tianjin Children's Hospital, Tianjin, China.; Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin, China.
Source: Clinical genetics [Clin Genet] 2024 Dec; Vol. 106 (6), pp. 702-712. Date of Electronic Publication: 2024 Jul 29.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
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  Data: Epilepsy due to potential loss of ATP6V1B2 function with mechanistic insight by a Drosophila Vha55 model.
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  Data: <searchLink fieldCode="AU" term="%22Sheng+W%22">Sheng W</searchLink>; Tianjin University Children's Hospital, Tianjin, China.; Tianjin Children's Hospital, Tianjin, China.; Tianjin Pediatric Research Institute, Tianjin Children's Hospital, Tianjin, China.; Clinical Pediatric College of Tianjin Medical University, Tianjin Medical University, Tianjin, China.<br /><searchLink fieldCode="AU" term="%22Wang+P%22">Wang P</searchLink>; Tianjin Children's Hospital, Tianjin, China.; Tianjin Pediatric Research Institute, Tianjin Children's Hospital, Tianjin, China.; Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin, China.<br /><searchLink fieldCode="AU" term="%22Cai+Y%22">Cai Y</searchLink>; Tianjin University Children's Hospital, Tianjin, China.; Institute of Medical Engineering and Translational Medicine, Tianjin University, Tianjin, China.<br /><searchLink fieldCode="AU" term="%22Zhai+C%22">Zhai C</searchLink>; The State Key Laboratory of Medicinal Chemical Biology, Tianjin Key Laboratory of Protein Sciences, College of Life Sciences, Nankai University, Tianjin, China.<br /><searchLink fieldCode="AU" term="%22Wang+H%22">Wang H</searchLink>; Tianjin Children's Hospital, Tianjin, China.; Department of Neuroloy, Tianjin Children's Hospital, Tianjin, China.<br /><searchLink fieldCode="AU" term="%22Zhou+F%22">Zhou F</searchLink>; Tianjin University Children's Hospital, Tianjin, China.; Tianjin Children's Hospital, Tianjin, China.; Tianjin Pediatric Research Institute, Tianjin Children's Hospital, Tianjin, China.; Clinical Pediatric College of Tianjin Medical University, Tianjin Medical University, Tianjin, China.<br /><searchLink fieldCode="AU" term="%22Liu+X%22">Liu X</searchLink>; Tianjin University Children's Hospital, Tianjin, China.; Institute of Medical Engineering and Translational Medicine, Tianjin University, Tianjin, China.<br /><searchLink fieldCode="AU" term="%22Wang+L%22">Wang L</searchLink>; Tianjin University Children's Hospital, Tianjin, China.; Tianjin Children's Hospital, Tianjin, China.; Tianjin Pediatric Research Institute, Tianjin Children's Hospital, Tianjin, China.; Clinical Pediatric College of Tianjin Medical University, Tianjin Medical University, Tianjin, China.<br /><searchLink fieldCode="AU" term="%22Li+D%22">Li D</searchLink>; Tianjin Children's Hospital, Tianjin, China.; Department of Neuroloy, Tianjin Children's Hospital, Tianjin, China.<br /><searchLink fieldCode="AU" term="%22Shu+J%22">Shu J</searchLink>; Tianjin University Children's Hospital, Tianjin, China.; Tianjin Children's Hospital, Tianjin, China.; Tianjin Pediatric Research Institute, Tianjin Children's Hospital, Tianjin, China.; Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin, China.<br /><searchLink fieldCode="AU" term="%22Cai+C%22">Cai C</searchLink>; Tianjin University Children's Hospital, Tianjin, China.; Tianjin Children's Hospital, Tianjin, China.; Tianjin Pediatric Research Institute, Tianjin Children's Hospital, Tianjin, China.; Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin, China.
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  Data: <searchLink fieldCode="JN" term="%220253664%22">Clinical genetics</searchLink> [Clin Genet] 2024 Dec; Vol. 106 (6), pp. 702-712. <i>Date of Electronic Publication: </i>2024 Jul 29.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Munksgaard%22">Munksgaard </searchLink><i>Country of Publication: </i>Denmark <i>NLM ID: </i>0253664 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1399-0004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200099163%22">00099163 </searchLink><i>NLM ISO Abbreviation: </i>Clin Genet <i>Subsets: </i>MEDLINE
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        Value: 10.1111/cge.14600
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              M: 12
              Text: 2024 Dec
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              Y: 2024
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