Epilepsy due to a MED25 Homozygous Pathogenic Founder Variant.
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| Title: | Epilepsy due to a MED25 Homozygous Pathogenic Founder Variant. |
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| Authors: | Ng AC; Department of Pediatrics, Alberta Children's Hospital Research Institute, Hotchkiss Brain Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Division of Neurology, Department of Pediatrics, Faculty of Medicine and Dentistry, University of Alberta and Stollery Children's Hospital, Edmonton, Alberta, Canada., D'Alfonso S; Department of Pediatrics, Alberta Children's Hospital Research Institute, Hotchkiss Brain Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Innes AM; Department of Pediatrics, Alberta Children's Hospital Research Institute, Hotchkiss Brain Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Department of Medical Genetics, University of Calgary, Calgary, Canada., Scantlebury MH; Department of Pediatrics, Alberta Children's Hospital Research Institute, Hotchkiss Brain Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada. |
| Source: | Journal of child neurology [J Child Neurol] 2026 Apr; Vol. 41 (4), pp. 574-580. Date of Electronic Publication: 2025 Sep 24. |
| Publication Type: | Journal Article; Case Reports |
| Journal Info: | Publisher: Sage Country of Publication: United States NLM ID: 8606714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1708-8283 (Electronic) Linking ISSN: 08830738 NLM ISO Abbreviation: J Child Neurol Subsets: 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: 40990994 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Epilepsy due to a MED25 Homozygous Pathogenic Founder Variant. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Ng+AC%22">Ng AC</searchLink>; Department of Pediatrics, Alberta Children's Hospital Research Institute, Hotchkiss Brain Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Division of Neurology, Department of Pediatrics, Faculty of Medicine and Dentistry, University of Alberta and Stollery Children's Hospital, Edmonton, Alberta, Canada.<br /><searchLink fieldCode="AU" term="%22D'Alfonso+S%22">D'Alfonso S</searchLink>; Department of Pediatrics, Alberta Children's Hospital Research Institute, Hotchkiss Brain Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.<br /><searchLink fieldCode="AU" term="%22Innes+AM%22">Innes AM</searchLink>; Department of Pediatrics, Alberta Children's Hospital Research Institute, Hotchkiss Brain Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Department of Medical Genetics, University of Calgary, Calgary, Canada.<br /><searchLink fieldCode="AU" term="%22Scantlebury+MH%22">Scantlebury MH</searchLink>; Department of Pediatrics, Alberta Children's Hospital Research Institute, Hotchkiss Brain Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%228606714%22">Journal of child neurology</searchLink> [J Child Neurol] 2026 Apr; Vol. 41 (4), pp. 574-580. <i>Date of Electronic Publication: </i>2025 Sep 24. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Case Reports – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Sage%22">Sage </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>8606714 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1708-8283 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2208830738%22">08830738 </searchLink><i>NLM ISO Abbreviation: </i>J Child Neurol <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=40990994 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1177/08830738251377579 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 574 Titles: – TitleFull: Epilepsy due to a MED25 Homozygous Pathogenic Founder Variant. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Ng AC – PersonEntity: Name: NameFull: D'Alfonso S – PersonEntity: Name: NameFull: Innes AM – PersonEntity: Name: NameFull: Scantlebury MH IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 04 Text: 2026 Apr Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 1708-8283 Numbering: – Type: volume Value: 41 – Type: issue Value: 4 Titles: – TitleFull: Journal of child neurology Type: main |
| ResultId | 1 |