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Clinical and genetic landscape of epilepsies with absence seizures and single-gene etiology.

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Title: Clinical and genetic landscape of epilepsies with absence seizures and single-gene etiology.
Authors: Balestrini S; Neuroscience and Human Genetics Department, Meyer Children's Hospital IRCCS, Florence, Italy.; Department of Neuroscience, Pharmacology and Child Health, University of Florence, Florence, Italy., Galli I; Neuroscience and Human Genetics Department, Meyer Children's Hospital IRCCS, Florence, Italy.; Department of Neuroscience, Pharmacology and Child Health, University of Florence, Florence, Italy., Ricci ML; Neuroscience and Human Genetics Department, Meyer Children's Hospital IRCCS, Florence, Italy., Parrini E; Neuroscience and Human Genetics Department, Meyer Children's Hospital IRCCS, Florence, Italy., Mei D; Neuroscience and Human Genetics Department, Meyer Children's Hospital IRCCS, Florence, Italy., Mastrangelo M; Department of Women/Child Health and Urological Science, Sapienza University of Rome, Rome, Italy.; Unit of Child Neurology and Psychiatry, Department of Neuroscience/Mental Health, Azienda Ospedaliero Universitaria Policlinico Umberto I- Rome, Rome, Italy., Pisani F; Unit of Child Neurology and Psychiatry, Department of Neuroscience/Mental Health, Azienda Ospedaliero Universitaria Policlinico Umberto I- Rome, Rome, Italy.; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy., Filippi C; Paediatric Neurology and Psychiatry Unit, Spedali Civili Children's Hospital, University of Brescia, Brescia, Italy., Giordano L; Paediatric Neurology and Psychiatry Unit, Spedali Civili Children's Hospital, University of Brescia, Brescia, Italy., Cesaroni E; Child Neurology and Psychiatric Unit, G. Salesi Pediatric Hospital; AOU Delle Marche, Ancona, Italy., Marini C; Child Neurology and Psychiatric Unit, G. Salesi Pediatric Hospital; AOU Delle Marche, Ancona, Italy., Cerulli Irelli E; Department of Human Neurosciences, Sapienza University, Rome, Italy., di Bonaventura C; Department of Human Neurosciences, Sapienza University, Rome, Italy., Rubino M; Neurology Unit, University Hospital Federico II, Naples, Italy., Coppola A; Neurology Unit, University Hospital Federico II, Naples, Italy., Proietti J; Child Neuropsychiatric Unit, Department of Engineering for Innovation Medicine, University of Verona, Verona, Italy., Barco TL; Child Neuropsychiatric Unit, Department of Engineering for Innovation Medicine, University of Verona, Verona, Italy., Darra F; Child Neuropsychiatric Unit, Department of Engineering for Innovation Medicine, University of Verona, Verona, Italy., Licchetta L; IRCCS Istituto Delle Scienze Neurologiche di Bologna, Bologna, Italy., Bisulli F; IRCCS Istituto Delle Scienze Neurologiche di Bologna, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Perulli M; Pediatric Neurology and Pschiatry, Dipartimento Della Salute Della Donna, Del Bambino e di Sanità Pubblica, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy., Battaglia D; Dipartimento di Scienza Della Vita e di Sanità Pubblica, Università Cattolica del Sacro Cuore, Rome, Italy., De Dominicis A; Neurology Epilepsy and Movement Disorders Unit, Bambino Gesu' Children's Hospital, IRCCS, Rome, Italy., Trivisano M; Neurology Epilepsy and Movement Disorders Unit, Bambino Gesu' Children's Hospital, IRCCS, Rome, Italy., Specchio N; Neurology Epilepsy and Movement Disorders Unit, Bambino Gesu' Children's Hospital, IRCCS, Rome, Italy.; University Hospitals KU Leuven, Leuven, Belgium., Solazzi R; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Caputo D; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Canafoglia L; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Guerrini R; Neuroscience and Human Genetics Department, Meyer Children's Hospital IRCCS, Florence, Italy.; Department of Neuroscience, Pharmacology and Child Health, University of Florence, Florence, Italy.
Corporate Authors: LICE Collaborative group
Source: Epilepsia [Epilepsia] 2026 Jan; Vol. 67 (1), pp. 272-290. Date of Electronic Publication: 2025 Oct 25.
Publication Type: Journal Article; Multicenter Study
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:
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PubType: Academic Journal
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  Data: Clinical and genetic landscape of epilepsies with absence seizures and single-gene etiology.
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  Data: <searchLink fieldCode="AU" term="%22Balestrini+S%22">Balestrini S</searchLink>; Neuroscience and Human Genetics Department, Meyer Children's Hospital IRCCS, Florence, Italy.; Department of Neuroscience, Pharmacology and Child Health, University of Florence, Florence, Italy.<br /><searchLink fieldCode="AU" term="%22Galli+I%22">Galli I</searchLink>; Neuroscience and Human Genetics Department, Meyer Children's Hospital IRCCS, Florence, Italy.; Department of Neuroscience, Pharmacology and Child Health, University of Florence, Florence, Italy.<br /><searchLink fieldCode="AU" term="%22Ricci+ML%22">Ricci ML</searchLink>; Neuroscience and Human Genetics Department, Meyer Children's Hospital IRCCS, Florence, Italy.<br /><searchLink fieldCode="AU" term="%22Parrini+E%22">Parrini E</searchLink>; Neuroscience and Human Genetics Department, Meyer Children's Hospital IRCCS, Florence, Italy.<br /><searchLink fieldCode="AU" term="%22Mei+D%22">Mei D</searchLink>; Neuroscience and Human Genetics Department, Meyer Children's Hospital IRCCS, Florence, Italy.<br /><searchLink fieldCode="AU" term="%22Mastrangelo+M%22">Mastrangelo M</searchLink>; Department of Women/Child Health and Urological Science, Sapienza University of Rome, Rome, Italy.; Unit of Child Neurology and Psychiatry, Department of Neuroscience/Mental Health, Azienda Ospedaliero Universitaria Policlinico Umberto I- Rome, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Pisani+F%22">Pisani F</searchLink>; Unit of Child Neurology and Psychiatry, Department of Neuroscience/Mental Health, Azienda Ospedaliero Universitaria Policlinico Umberto I- Rome, Rome, Italy.; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Filippi+C%22">Filippi C</searchLink>; Paediatric Neurology and Psychiatry Unit, Spedali Civili Children's Hospital, University of Brescia, Brescia, Italy.<br /><searchLink fieldCode="AU" term="%22Giordano+L%22">Giordano L</searchLink>; Paediatric Neurology and Psychiatry Unit, Spedali Civili Children's Hospital, University of Brescia, Brescia, Italy.<br /><searchLink fieldCode="AU" term="%22Cesaroni+E%22">Cesaroni E</searchLink>; Child Neurology and Psychiatric Unit, G. Salesi Pediatric Hospital; AOU Delle Marche, Ancona, Italy.<br /><searchLink fieldCode="AU" term="%22Marini+C%22">Marini C</searchLink>; Child Neurology and Psychiatric Unit, G. Salesi Pediatric Hospital; AOU Delle Marche, Ancona, Italy.<br /><searchLink fieldCode="AU" term="%22Cerulli+Irelli+E%22">Cerulli Irelli E</searchLink>; Department of Human Neurosciences, Sapienza University, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22di+Bonaventura+C%22">di Bonaventura C</searchLink>; Department of Human Neurosciences, Sapienza University, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Rubino+M%22">Rubino M</searchLink>; Neurology Unit, University Hospital Federico II, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Coppola+A%22">Coppola A</searchLink>; Neurology Unit, University Hospital Federico II, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Proietti+J%22">Proietti J</searchLink>; Child Neuropsychiatric Unit, Department of Engineering for Innovation Medicine, University of Verona, Verona, Italy.<br /><searchLink fieldCode="AU" term="%22Barco+TL%22">Barco TL</searchLink>; Child Neuropsychiatric Unit, Department of Engineering for Innovation Medicine, University of Verona, Verona, Italy.<br /><searchLink fieldCode="AU" term="%22Darra+F%22">Darra F</searchLink>; Child Neuropsychiatric Unit, Department of Engineering for Innovation Medicine, University of Verona, Verona, Italy.<br /><searchLink fieldCode="AU" term="%22Licchetta+L%22">Licchetta L</searchLink>; IRCCS Istituto Delle Scienze Neurologiche di Bologna, Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Bisulli+F%22">Bisulli F</searchLink>; IRCCS Istituto Delle Scienze Neurologiche di Bologna, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Perulli+M%22">Perulli M</searchLink>; Pediatric Neurology and Pschiatry, Dipartimento Della Salute Della Donna, Del Bambino e di Sanità Pubblica, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Battaglia+D%22">Battaglia D</searchLink>; Dipartimento di Scienza Della Vita e di Sanità Pubblica, Università Cattolica del Sacro Cuore, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22De+Dominicis+A%22">De Dominicis A</searchLink>; Neurology Epilepsy and Movement Disorders Unit, Bambino Gesu' Children's Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Trivisano+M%22">Trivisano M</searchLink>; Neurology Epilepsy and Movement Disorders Unit, Bambino Gesu' Children's Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Specchio+N%22">Specchio N</searchLink>; Neurology Epilepsy and Movement Disorders Unit, Bambino Gesu' Children's Hospital, IRCCS, Rome, Italy.; University Hospitals KU Leuven, Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22Solazzi+R%22">Solazzi R</searchLink>; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Caputo+D%22">Caputo D</searchLink>; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Canafoglia+L%22">Canafoglia L</searchLink>; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Guerrini+R%22">Guerrini R</searchLink>; Neuroscience and Human Genetics Department, Meyer Children's Hospital IRCCS, Florence, Italy.; Department of Neuroscience, Pharmacology and Child Health, University of Florence, Florence, Italy.
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  Data: <searchLink fieldCode="JN" term="%222983306R%22">Epilepsia</searchLink> [Epilepsia] 2026 Jan; Vol. 67 (1), pp. 272-290. <i>Date of Electronic Publication: </i>2025 Oct 25.
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  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
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