Diagnostic yield and copy number variants findings in 219 adult patients with developmental and epileptic encephalopathy.
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| Title: | Diagnostic yield and copy number variants findings in 219 adult patients with developmental and epileptic encephalopathy. |
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| Authors: | Licchetta L; IRCCS Istituto Delle Scienze Neurologiche di Bologna, full member of European Reference Network EpiCARE, Bologna, Italy.; Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy., Bruschi G; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Giangregorio T; Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy., Stipa C; IRCCS Istituto Delle Scienze Neurologiche di Bologna, full member of European Reference Network EpiCARE, Bologna, Italy., Mannini E; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Minardi R; IRCCS Istituto Delle Scienze Neurologiche di Bologna, full member of European Reference Network EpiCARE, Bologna, Italy., Mostacci B; IRCCS Istituto Delle Scienze Neurologiche di Bologna, full member of European Reference Network EpiCARE, Bologna, Italy., Tontini V; IRCCS Istituto Delle Scienze Neurologiche di Bologna, full member of European Reference Network EpiCARE, Bologna, Italy., Pippucci T; Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy., Bisulli F; IRCCS Istituto Delle Scienze Neurologiche di Bologna, full member of European Reference Network EpiCARE, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Magini P; Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy. |
| Source: | Epilepsia [Epilepsia] 2026 Jul 04. Date of Electronic Publication: 2026 Jul 04. |
| 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: 42400436 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Diagnostic yield and copy number variants findings in 219 adult patients with developmental and epileptic encephalopathy. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Licchetta+L%22">Licchetta L</searchLink>; IRCCS Istituto Delle Scienze Neurologiche di Bologna, full member of European Reference Network EpiCARE, Bologna, Italy.; Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Bruschi+G%22">Bruschi G</searchLink>; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Giangregorio+T%22">Giangregorio T</searchLink>; Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Stipa+C%22">Stipa C</searchLink>; IRCCS Istituto Delle Scienze Neurologiche di Bologna, full member of European Reference Network EpiCARE, Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Mannini+E%22">Mannini E</searchLink>; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Minardi+R%22">Minardi R</searchLink>; IRCCS Istituto Delle Scienze Neurologiche di Bologna, full member of European Reference Network EpiCARE, Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Mostacci+B%22">Mostacci B</searchLink>; IRCCS Istituto Delle Scienze Neurologiche di Bologna, full member of European Reference Network EpiCARE, Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Tontini+V%22">Tontini V</searchLink>; IRCCS Istituto Delle Scienze Neurologiche di Bologna, full member of European Reference Network EpiCARE, Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Pippucci+T%22">Pippucci T</searchLink>; Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Bisulli+F%22">Bisulli F</searchLink>; IRCCS Istituto Delle Scienze Neurologiche di Bologna, full member of European Reference Network EpiCARE, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Magini+P%22">Magini P</searchLink>; Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%222983306R%22">Epilepsia</searchLink> [Epilepsia] 2026 Jul 04. <i>Date of Electronic Publication: </i>2026 Jul 04. – 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=42400436 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/epi.70360 Languages: – Code: eng Text: English Titles: – TitleFull: Diagnostic yield and copy number variants findings in 219 adult patients with developmental and epileptic encephalopathy. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Licchetta L – PersonEntity: Name: NameFull: Bruschi G – PersonEntity: Name: NameFull: Giangregorio T – PersonEntity: Name: NameFull: Stipa C – PersonEntity: Name: NameFull: Mannini E – PersonEntity: Name: NameFull: Minardi R – PersonEntity: Name: NameFull: Mostacci B – PersonEntity: Name: NameFull: Tontini V – PersonEntity: Name: NameFull: Pippucci T – PersonEntity: Name: NameFull: Bisulli F – PersonEntity: Name: NameFull: Magini P IsPartOfRelationships: – BibEntity: Dates: – D: 04 M: 07 Text: 2026 Jul 04 Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 1528-1167 Titles: – TitleFull: Epilepsia Type: main |
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