Precision diagnosis of GABRA1-associated encephalopathies and epilepsy: optimizing variants classification and molecular subregional effects.
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| Title: | Precision diagnosis of GABRA1-associated encephalopathies and epilepsy: optimizing variants classification and molecular subregional effects. |
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| Authors: | Liu WH; Department of Neurology, The First Affiliated Hospital and Clinical Neuroscience Institute of Jinan University, Guangzhou, China., Li QL; Department of Neurology, The First Affiliated Hospital and Clinical Neuroscience Institute of Jinan University, Guangzhou, China.; Department of Neurology, The First People's Hospital of Chenzhou Affiliated to the University of South China, The First Affiliated Hospital of Xiangnan University, Chenzhou, China., Li HP; Department of Neurology, The First People's Hospital of Chenzhou Affiliated to the University of South China, The First Affiliated Hospital of Xiangnan University, Chenzhou, China., Wen QR; The Sixth Affiliated Hospital of Jinan University, Guangzhou, China., Zhang SQ; Department of Neurology, The First Affiliated Hospital and Clinical Neuroscience Institute of Jinan University, Guangzhou, China., Ding Y; Department of Neurology, The First Affiliated Hospital and Clinical Neuroscience Institute of Jinan University, Guangzhou, China., Meng H; Department of Neurology, The First Affiliated Hospital and Clinical Neuroscience Institute of Jinan University, Guangzhou, China. |
| Source: | Frontiers in genetics [Front Genet] 2026 May 19; Vol. 17, pp. 1818471. Date of Electronic Publication: 2026 May 19 (Print Publication: 2026). |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| FullText | Links: – Type: pdflink Text: Availability: 1 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 42232514 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Precision diagnosis of GABRA1-associated encephalopathies and epilepsy: optimizing variants classification and molecular subregional effects. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Liu+WH%22">Liu WH</searchLink>; Department of Neurology, The First Affiliated Hospital and Clinical Neuroscience Institute of Jinan University, Guangzhou, China.<br /><searchLink fieldCode="AU" term="%22Li+QL%22">Li QL</searchLink>; Department of Neurology, The First Affiliated Hospital and Clinical Neuroscience Institute of Jinan University, Guangzhou, China.; Department of Neurology, The First People's Hospital of Chenzhou Affiliated to the University of South China, The First Affiliated Hospital of Xiangnan University, Chenzhou, China.<br /><searchLink fieldCode="AU" term="%22Li+HP%22">Li HP</searchLink>; Department of Neurology, The First People's Hospital of Chenzhou Affiliated to the University of South China, The First Affiliated Hospital of Xiangnan University, Chenzhou, China.<br /><searchLink fieldCode="AU" term="%22Wen+QR%22">Wen QR</searchLink>; The Sixth Affiliated Hospital of Jinan University, Guangzhou, China.<br /><searchLink fieldCode="AU" term="%22Zhang+SQ%22">Zhang SQ</searchLink>; Department of Neurology, The First Affiliated Hospital and Clinical Neuroscience Institute of Jinan University, Guangzhou, China.<br /><searchLink fieldCode="AU" term="%22Ding+Y%22">Ding Y</searchLink>; Department of Neurology, The First Affiliated Hospital and Clinical Neuroscience Institute of Jinan University, Guangzhou, China.<br /><searchLink fieldCode="AU" term="%22Meng+H%22">Meng H</searchLink>; Department of Neurology, The First Affiliated Hospital and Clinical Neuroscience Institute of Jinan University, Guangzhou, China. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101560621%22">Frontiers in genetics</searchLink> [Front Genet] 2026 May 19; Vol. 17, pp. 1818471. <i>Date of Electronic Publication: </i>2026 May 19 (<i>Print Publication: </i>2026). – 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="%22Frontiers+Research+Foundation%22">Frontiers Research Foundation </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101560621 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>1664-8021 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216648021%22">16648021 </searchLink><i>NLM ISO Abbreviation: </i>Front Genet <i>Subsets: </i>PubMed not MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=42232514 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.3389/fgene.2026.1818471 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 1818471 Titles: – TitleFull: Precision diagnosis of GABRA1-associated encephalopathies and epilepsy: optimizing variants classification and molecular subregional effects. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Liu WH – PersonEntity: Name: NameFull: Li QL – PersonEntity: Name: NameFull: Li HP – PersonEntity: Name: NameFull: Wen QR – PersonEntity: Name: NameFull: Zhang SQ – PersonEntity: Name: NameFull: Ding Y – PersonEntity: Name: NameFull: Meng H IsPartOfRelationships: – BibEntity: Dates: – D: 19 M: 05 Text: 2026 May 19 Type: published Y: 2026 Identifiers: – Type: issn-print Value: 1664-8021 Numbering: – Type: volume Value: 17 Titles: – TitleFull: Frontiers in genetics Type: main |
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