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. |
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| 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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| ISSN: | 2470-9239 |
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| DOI: | 10.1002/epi4.12697 |
