Two pairs of CACNA1I (CaV3.3) variants with opposite effects on channel function cause neurodevelopmental disorders of varying severity.
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| Title: | Two pairs of CACNA1I (Ca |
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| Authors: | Ghaleb, Yousra El1 (AUTHOR) yousra.el-ghaleb@i-med.ac.at, Fernández-Quintero, Monica L.2 (AUTHOR), Campiglio, Marta1 (AUTHOR), Tuluc, Petronel3 (AUTHOR), Höing, Ann-Sophie4 (AUTHOR), Kortüm, Fanny4 (AUTHOR), Motazacker, Mahdi M.5 (AUTHOR), Jansen, Iris E.5 (AUTHOR), Elting, Mariet W.5 (AUTHOR), Plomp, Astrid S.5 (AUTHOR), Fischer, Anna-Lena M.6 (AUTHOR), Siu, Victoria M.7 (AUTHOR), Kutsche, Kerstin4,8 (AUTHOR), Flucher, Bernhard E.1 (AUTHOR) bernhard.e.flucher@i-med.ac.at |
| Source: | PLoS Genetics. 8/18/2025, Vol. 21 Issue 8, p1-28. 28p. |
| Database: | Academic Search Ultimate |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 187384055 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Two pairs of CACNA1I (Ca<subscript>V</subscript>3.3) variants with opposite effects on channel function cause neurodevelopmental disorders of varying severity. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Ghaleb%2C+Yousra+El%22">Ghaleb, Yousra El</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> yousra.el-ghaleb@i-med.ac.at</i><br /><searchLink fieldCode="AR" term="%22Fernández-Quintero%2C+Monica+L%2E%22">Fernández-Quintero, Monica L.</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Campiglio%2C+Marta%22">Campiglio, Marta</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Tuluc%2C+Petronel%22">Tuluc, Petronel</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Höing%2C+Ann-Sophie%22">Höing, Ann-Sophie</searchLink><relatesTo>4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Kortüm%2C+Fanny%22">Kortüm, Fanny</searchLink><relatesTo>4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Motazacker%2C+Mahdi+M%2E%22">Motazacker, Mahdi M.</searchLink><relatesTo>5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Jansen%2C+Iris+E%2E%22">Jansen, Iris E.</searchLink><relatesTo>5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Elting%2C+Mariet+W%2E%22">Elting, Mariet W.</searchLink><relatesTo>5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Plomp%2C+Astrid+S%2E%22">Plomp, Astrid S.</searchLink><relatesTo>5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Fischer%2C+Anna-Lena+M%2E%22">Fischer, Anna-Lena M.</searchLink><relatesTo>6</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Siu%2C+Victoria+M%2E%22">Siu, Victoria M.</searchLink><relatesTo>7</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Kutsche%2C+Kerstin%22">Kutsche, Kerstin</searchLink><relatesTo>4,8</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Flucher%2C+Bernhard+E%2E%22">Flucher, Bernhard E.</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> bernhard.e.flucher@i-med.ac.at</i> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22PLoS+Genetics%22">PLoS Genetics</searchLink>. 8/18/2025, Vol. 21 Issue 8, p1-28. 28p. |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=187384055 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1371/journal.pgen.1011828 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 28 StartPage: 1 Titles: – TitleFull: Two pairs of CACNA1I (CaV3.3) variants with opposite effects on channel function cause neurodevelopmental disorders of varying severity. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Ghaleb, Yousra El – PersonEntity: Name: NameFull: Fernández-Quintero, Monica L. – PersonEntity: Name: NameFull: Campiglio, Marta – PersonEntity: Name: NameFull: Tuluc, Petronel – PersonEntity: Name: NameFull: Höing, Ann-Sophie – PersonEntity: Name: NameFull: Kortüm, Fanny – PersonEntity: Name: NameFull: Motazacker, Mahdi M. – PersonEntity: Name: NameFull: Jansen, Iris E. – PersonEntity: Name: NameFull: Elting, Mariet W. – PersonEntity: Name: NameFull: Plomp, Astrid S. – PersonEntity: Name: NameFull: Fischer, Anna-Lena M. – PersonEntity: Name: NameFull: Siu, Victoria M. – PersonEntity: Name: NameFull: Kutsche, Kerstin – PersonEntity: Name: NameFull: Flucher, Bernhard E. IsPartOfRelationships: – BibEntity: Dates: – D: 18 M: 08 Text: 8/18/2025 Type: published Y: 2025 Identifiers: – Type: issn-print Value: 15537390 Numbering: – Type: volume Value: 21 – Type: issue Value: 8 Titles: – TitleFull: PLoS Genetics Type: main |
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