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.
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
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  Data: Diagnostic yield and copy number variants findings in 219 adult patients with developmental and epileptic encephalopathy.
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  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.
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  Data: <searchLink fieldCode="JN" term="%222983306R%22">Epilepsia</searchLink> [Epilepsia] 2026 Jul 04. <i>Date of Electronic Publication: </i>2026 Jul 04.
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              Text: 2026 Jul 04
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