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Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes.

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Title: Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes.
Authors: Castellotti B; Department of Diagnostic and Technology, Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy., Canafoglia L; Integrated Diagnostics for Epilepsy, Department of Diagnostic and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Freri E; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Tappatà M; IRCCS Istituto delle Scienze Neurologiche di Bologna, Epilepsy Center, Unit of Neurology, Bellaria Hospital, Bologna, Italy., Messina G; Department of Diagnostic and Technology, Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy., Magri S; Department of Diagnostic and Technology, Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy., DiFrancesco JC; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Department of Neurology, Fondazione IRCCS San Gerardo dei Tintori, University of Milano-Bicocca, Monza, Italy., Fanella M; Department of Neurology, Fabrizio Spaziani Hospital, Frosinone, Italy., Di Bonaventura C; Department of Human Neurosciences, Policlinico Umberto I, Sapienza University of Rome, Rome, Italy., Morano A; Department of Human Neurosciences, Policlinico Umberto I, Sapienza University of Rome, Rome, Italy., Granata T; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Gellera C; Department of Diagnostic and Technology, Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy., Franceschetti S; Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Michelucci R; IRCCS Istituto delle Scienze Neurologiche di Bologna, Epilepsy Center, Unit of Neurology, Bellaria Hospital, Bologna, Italy.
Source: Epilepsia open [Epilepsia Open] 2023 Jun; Vol. 8 (2), pp. 645-650. Date of Electronic Publication: 2023 Feb 09.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101692036 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2470-9239 (Electronic) Linking ISSN: 24709239 NLM ISO Abbreviation: Epilepsia Open Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes.
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  Data: <searchLink fieldCode="AU" term="%22Castellotti+B%22">Castellotti B</searchLink>; Department of Diagnostic and Technology, Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.<br /><searchLink fieldCode="AU" term="%22Canafoglia+L%22">Canafoglia L</searchLink>; Integrated Diagnostics for Epilepsy, Department of Diagnostic and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Freri+E%22">Freri E</searchLink>; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Tappatà+M%22">Tappatà M</searchLink>; IRCCS Istituto delle Scienze Neurologiche di Bologna, Epilepsy Center, Unit of Neurology, Bellaria Hospital, Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Messina+G%22">Messina G</searchLink>; Department of Diagnostic and Technology, Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.<br /><searchLink fieldCode="AU" term="%22Magri+S%22">Magri S</searchLink>; Department of Diagnostic and Technology, Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.<br /><searchLink fieldCode="AU" term="%22DiFrancesco+JC%22">DiFrancesco JC</searchLink>; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Department of Neurology, Fondazione IRCCS San Gerardo dei Tintori, University of Milano-Bicocca, Monza, Italy.<br /><searchLink fieldCode="AU" term="%22Fanella+M%22">Fanella M</searchLink>; Department of Neurology, Fabrizio Spaziani Hospital, Frosinone, Italy.<br /><searchLink fieldCode="AU" term="%22Di+Bonaventura+C%22">Di Bonaventura C</searchLink>; Department of Human Neurosciences, Policlinico Umberto I, Sapienza University of Rome, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Morano+A%22">Morano A</searchLink>; Department of Human Neurosciences, Policlinico Umberto I, Sapienza University of Rome, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Granata+T%22">Granata T</searchLink>; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Gellera+C%22">Gellera C</searchLink>; Department of Diagnostic and Technology, Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.<br /><searchLink fieldCode="AU" term="%22Franceschetti+S%22">Franceschetti S</searchLink>; Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Michelucci+R%22">Michelucci R</searchLink>; IRCCS Istituto delle Scienze Neurologiche di Bologna, Epilepsy Center, Unit of Neurology, Bellaria Hospital, Bologna, Italy.
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  Data: <searchLink fieldCode="JN" term="%22101692036%22">Epilepsia open</searchLink> [Epilepsia Open] 2023 Jun; Vol. 8 (2), pp. 645-650. <i>Date of Electronic Publication: </i>2023 Feb 09.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22John+Wiley+%26+Sons%2C+Inc%22">John Wiley & Sons, Inc </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101692036 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2470-9239 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2224709239%22">24709239 </searchLink><i>NLM ISO Abbreviation: </i>Epilepsia Open <i>Subsets: </i>MEDLINE
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