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Phenotypic traits and family history in patients with 22q11.2 deletion syndrome and generalized epilepsy: A multicenter case-control study.

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Title: Phenotypic traits and family history in patients with 22q11.2 deletion syndrome and generalized epilepsy: A multicenter case-control study.
Authors: Cerulli Irelli E; Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy., Fanella M; Fabrizio Spaziani Hospital, Frosinone, Italy., Chaumette B; Groupe Hospitalier Universitaire-Paris Psychiatrie et Neurosciences, Pôle Hospitalo-Universitaire d'évaluation, Prévention, et Innovation Thérapeutique, Paris, France.; Institute of Psychiatry and Neuroscience of Paris, INSERM U1266, Université Paris Cité, Paris, France.; Department of Psychiatry, McGill University, Montreal, Quebec, Canada., Putotto C; Department of Maternal, Infantile, and Urological Sciences, Sapienza University of Rome, Rome, Italy., Mignot C; Department of Genetics, Center for Rare Causes of Intellectual Disabilities and UPMC Research Group 'Intellectual Disabilities and Autism', Paris, France., Mazzeo A; IRCCS Neuromed, Pozzilli, Italy., Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Riva A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy., Accinni T; Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy., Louveau C; Groupe Hospitalier Universitaire-Paris Psychiatrie et Neurosciences, Pôle Hospitalo-Universitaire d'évaluation, Prévention, et Innovation Thérapeutique, Paris, France., Giovannetti A; Clinical Genomics Laboratory, Fondazione IRCCS Casa Sollievo Della Sofferenza, San Giovanni Rotondo, Italy., Pugnaloni F; Research Area of Fetal, Neonatal, and Cardiological Sciences, Bambino Gesù Children's Hospital, Rome, Italy., Gavaret M; Service de Neurophysiologie Clinique, Groupe Hospitalier Universitaire Paris Psychiatrie et Neurosciences, Paris, France., Di Fabio F; Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy., Fortunato F; Department of Medical and Surgical Sciences, Institute of Neurology, Magna Graecia University, Catanzaro, Italy., Dorn T; Rehaklinik Sonnmatt Luzern, Zurzach Care, Lucerne, Switzerland., Ferlazzo E; Department of Medical and Surgical Sciences, Institute of Neurology, Magna Graecia University, Catanzaro, Italy., Gambardella A; Department of Medical and Surgical Sciences, Institute of Neurology, Magna Graecia University, Catanzaro, Italy., Ramantani G; Department of Neuropediatrics, University Children's Hospital Zurich and University of Zurich, Zurich, Switzerland., Orlando B; Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy., Iftimovici A; Institute of Psychiatry and Neuroscience of Paris, INSERM U1266, Université Paris Cité, Paris, France., Operto FF; Department of Science of Health, School of Medicine, University of Catanzaro, Catanzaro, Italy., Pulvirenti F; Regional Reference Center for Primary Immune Deficiencies, University Hospital Policlinico Umberto I, Rome, Italy., Kluger G; Research Institute Rehabilitation, Transition, and Palliation, Paracelsus Medical University Salzburg, Salzburg, Austria.; Neuropediatric Clinic and Clinic for Neurorehabilitation, Epilepsy Center for Children and Adolescents, Vogtareuth, Germany., Caputo V; Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto 'Giannina Gaslini', Genoa, Italy., Di Bonaventura C; Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.
Source: Epilepsia [Epilepsia] 2025 Mar; Vol. 66 (3), pp. 859-869. Date of Electronic Publication: 2024 Dec 24.
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
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  Data: Phenotypic traits and family history in patients with 22q11.2 deletion syndrome and generalized epilepsy: A multicenter case-control study.
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  Data: <searchLink fieldCode="AU" term="%22Cerulli+Irelli+E%22">Cerulli Irelli E</searchLink>; Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Fanella+M%22">Fanella M</searchLink>; Fabrizio Spaziani Hospital, Frosinone, Italy.<br /><searchLink fieldCode="AU" term="%22Chaumette+B%22">Chaumette B</searchLink>; Groupe Hospitalier Universitaire-Paris Psychiatrie et Neurosciences, Pôle Hospitalo-Universitaire d'évaluation, Prévention, et Innovation Thérapeutique, Paris, France.; Institute of Psychiatry and Neuroscience of Paris, INSERM U1266, Université Paris Cité, Paris, France.; Department of Psychiatry, McGill University, Montreal, Quebec, Canada.<br /><searchLink fieldCode="AU" term="%22Putotto+C%22">Putotto C</searchLink>; Department of Maternal, Infantile, and Urological Sciences, Sapienza University of Rome, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Mignot+C%22">Mignot C</searchLink>; Department of Genetics, Center for Rare Causes of Intellectual Disabilities and UPMC Research Group 'Intellectual Disabilities and Autism', Paris, France.<br /><searchLink fieldCode="AU" term="%22Mazzeo+A%22">Mazzeo A</searchLink>; IRCCS Neuromed, Pozzilli, Italy.<br /><searchLink fieldCode="AU" term="%22Lemke+JR%22">Lemke JR</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Riva+A%22">Riva A</searchLink>; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Accinni+T%22">Accinni T</searchLink>; Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Louveau+C%22">Louveau C</searchLink>; Groupe Hospitalier Universitaire-Paris Psychiatrie et Neurosciences, Pôle Hospitalo-Universitaire d'évaluation, Prévention, et Innovation Thérapeutique, Paris, France.<br /><searchLink fieldCode="AU" term="%22Giovannetti+A%22">Giovannetti A</searchLink>; Clinical Genomics Laboratory, Fondazione IRCCS Casa Sollievo Della Sofferenza, San Giovanni Rotondo, Italy.<br /><searchLink fieldCode="AU" term="%22Pugnaloni+F%22">Pugnaloni F</searchLink>; Research Area of Fetal, Neonatal, and Cardiological Sciences, Bambino Gesù Children's Hospital, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Gavaret+M%22">Gavaret M</searchLink>; Service de Neurophysiologie Clinique, Groupe Hospitalier Universitaire Paris Psychiatrie et Neurosciences, Paris, France.<br /><searchLink fieldCode="AU" term="%22Di+Fabio+F%22">Di Fabio F</searchLink>; Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Fortunato+F%22">Fortunato F</searchLink>; Department of Medical and Surgical Sciences, Institute of Neurology, Magna Graecia University, Catanzaro, Italy.<br /><searchLink fieldCode="AU" term="%22Dorn+T%22">Dorn T</searchLink>; Rehaklinik Sonnmatt Luzern, Zurzach Care, Lucerne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Ferlazzo+E%22">Ferlazzo E</searchLink>; Department of Medical and Surgical Sciences, Institute of Neurology, Magna Graecia University, Catanzaro, Italy.<br /><searchLink fieldCode="AU" term="%22Gambardella+A%22">Gambardella A</searchLink>; Department of Medical and Surgical Sciences, Institute of Neurology, Magna Graecia University, Catanzaro, Italy.<br /><searchLink fieldCode="AU" term="%22Ramantani+G%22">Ramantani G</searchLink>; Department of Neuropediatrics, University Children's Hospital Zurich and University of Zurich, Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Orlando+B%22">Orlando B</searchLink>; Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Iftimovici+A%22">Iftimovici A</searchLink>; Institute of Psychiatry and Neuroscience of Paris, INSERM U1266, Université Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Operto+FF%22">Operto FF</searchLink>; Department of Science of Health, School of Medicine, University of Catanzaro, Catanzaro, Italy.<br /><searchLink fieldCode="AU" term="%22Pulvirenti+F%22">Pulvirenti F</searchLink>; Regional Reference Center for Primary Immune Deficiencies, University Hospital Policlinico Umberto I, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Kluger+G%22">Kluger G</searchLink>; Research Institute Rehabilitation, Transition, and Palliation, Paracelsus Medical University Salzburg, Salzburg, Austria.; Neuropediatric Clinic and Clinic for Neurorehabilitation, Epilepsy Center for Children and Adolescents, Vogtareuth, Germany.<br /><searchLink fieldCode="AU" term="%22Caputo+V%22">Caputo V</searchLink>; Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Striano+P%22">Striano P</searchLink>; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto 'Giannina Gaslini', Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Di+Bonaventura+C%22">Di Bonaventura C</searchLink>; Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.
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  Data: <searchLink fieldCode="JN" term="%222983306R%22">Epilepsia</searchLink> [Epilepsia] 2025 Mar; Vol. 66 (3), pp. 859-869. <i>Date of Electronic Publication: </i>2024 Dec 24.
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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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