De novo SRCAP variants cause developmental and epileptic encephalopathy and the phenotypic spectrum.
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| Title: | De novo SRCAP variants cause developmental and epileptic encephalopathy and the phenotypic spectrum. |
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| Authors: | Liang XY; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and Ministry of Education of China, Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China., Meng XH; Department of Neurosurgery, Shenzhen University General Hospital, Shenzhen University, Shenzhen, China., Wu WC; Department of Neurosurgery, Shenzhen University General Hospital, Shenzhen University, Shenzhen, China., Guo J; Epilepsy Center, Guangdong 999 Brain Hospital, Guangzhou, China., Luo S; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and Ministry of Education of China, Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China., Wang PY; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and Ministry of Education of China, Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China., Zhang DM; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and Ministry of Education of China, Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China., Lin ZS; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and Ministry of Education of China, Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China., Liang JJ; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and Ministry of Education of China, Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China., He SL; Department of Pediatrics, Shantou Chaonan Minsheng Hospital, Shantou, China., Li BM; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and Ministry of Education of China, Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China., Wang J; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and Ministry of Education of China, Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China., Yi YH; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and Ministry of Education of China, Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China., He N; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and Ministry of Education of China, Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China., Liao WP; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and Ministry of Education of China, Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China. |
| Corporate Authors: | China Epilepsy Gene 1.0 Project |
| Source: | Epilepsia [Epilepsia] 2026 Feb; Vol. 67 (2), pp. 846-861. Date of Electronic Publication: 2025 Oct 27. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 41144712 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: De novo SRCAP variants cause developmental and epileptic encephalopathy and the phenotypic spectrum. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Liang+XY%22">Liang XY</searchLink>; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and Ministry of Education of China, Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China.<br /><searchLink fieldCode="AU" term="%22Meng+XH%22">Meng XH</searchLink>; Department of Neurosurgery, Shenzhen University General Hospital, Shenzhen University, Shenzhen, China.<br /><searchLink fieldCode="AU" term="%22Wu+WC%22">Wu WC</searchLink>; Department of Neurosurgery, Shenzhen University General Hospital, Shenzhen University, Shenzhen, China.<br /><searchLink fieldCode="AU" term="%22Guo+J%22">Guo J</searchLink>; Epilepsy Center, Guangdong 999 Brain Hospital, Guangzhou, China.<br /><searchLink fieldCode="AU" term="%22Luo+S%22">Luo S</searchLink>; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and Ministry of Education of China, Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China.<br /><searchLink fieldCode="AU" term="%22Wang+PY%22">Wang PY</searchLink>; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and Ministry of Education of China, Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China.<br /><searchLink fieldCode="AU" term="%22Zhang+DM%22">Zhang DM</searchLink>; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and Ministry of Education of China, Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China.<br /><searchLink fieldCode="AU" term="%22Lin+ZS%22">Lin ZS</searchLink>; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and Ministry of Education of China, Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China.<br /><searchLink fieldCode="AU" term="%22Liang+JJ%22">Liang JJ</searchLink>; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and Ministry of Education of China, Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China.<br /><searchLink fieldCode="AU" term="%22He+SL%22">He SL</searchLink>; Department of Pediatrics, Shantou Chaonan Minsheng Hospital, Shantou, China.<br /><searchLink fieldCode="AU" term="%22Li+BM%22">Li BM</searchLink>; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and Ministry of Education of China, Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China.<br /><searchLink fieldCode="AU" term="%22Wang+J%22">Wang J</searchLink>; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and Ministry of Education of China, Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China.<br /><searchLink fieldCode="AU" term="%22Yi+YH%22">Yi YH</searchLink>; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and Ministry of Education of China, Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China.<br /><searchLink fieldCode="AU" term="%22He+N%22">He N</searchLink>; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and Ministry of Education of China, Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China.<br /><searchLink fieldCode="AU" term="%22Liao+WP%22">Liao WP</searchLink>; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and Ministry of Education of China, Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China. – Name: AuthorCorporate Label: Corporate Authors Group: Au Data: <searchLink fieldCode="CA" term="%22China+Epilepsy+Gene+1%2E0+Project%22">China Epilepsy Gene 1.0 Project</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%222983306R%22">Epilepsia</searchLink> [Epilepsia] 2026 Feb; Vol. 67 (2), pp. 846-861. <i>Date of Electronic Publication: </i>2025 Oct 27. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Blackwell+Science%22">Blackwell Science </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>2983306R <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1528-1167 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200139580%22">00139580 </searchLink><i>NLM ISO Abbreviation: </i>Epilepsia <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41144712 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1111/epi.18695 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 846 Titles: – TitleFull: De novo SRCAP variants cause developmental and epileptic encephalopathy and the phenotypic spectrum. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Liang XY – PersonEntity: Name: NameFull: Meng XH – PersonEntity: Name: NameFull: Wu WC – PersonEntity: Name: NameFull: Guo J – PersonEntity: Name: NameFull: Luo S – PersonEntity: Name: NameFull: Wang PY – PersonEntity: Name: NameFull: Zhang DM – PersonEntity: Name: NameFull: Lin ZS – PersonEntity: Name: NameFull: Liang JJ – PersonEntity: Name: NameFull: He SL – PersonEntity: Name: NameFull: Li BM – PersonEntity: Name: NameFull: Wang J – PersonEntity: Name: NameFull: Yi YH – PersonEntity: Name: NameFull: He N – PersonEntity: Name: NameFull: Liao WP IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 02 Text: 2026 Feb Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 1528-1167 Numbering: – Type: volume Value: 67 – Type: issue Value: 2 Titles: – TitleFull: Epilepsia Type: main |
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