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The Biallelic Inheritance of Two Novel SCN1A Variants Results in Developmental and Epileptic Encephalopathy Responsive to Levetiracetam.

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Title: The Biallelic Inheritance of Two Novel SCN1A Variants Results in Developmental and Epileptic Encephalopathy Responsive to Levetiracetam.
Authors: Dinoi G; Department of Pharmacy-Drug Sciences, University of Bari 'Aldo Moro', 70125 Bari, Italy., Conte E; Department of Pharmacy-Drug Sciences, University of Bari 'Aldo Moro', 70125 Bari, Italy., Palumbo O; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy., Benvenuto M; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy., Coppola MA; Department of Pharmacy-Drug Sciences, University of Bari 'Aldo Moro', 70125 Bari, Italy., Palumbo P; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy., Lastella P; Centro Sovraziendale Malattie Rare, UOC Medicina Interna Universitaria 'C. Frugoni', AOU Policlinico Consorziale di Bari, 70124 Bari, Italy., Boccanegra B; Department of Pharmacy-Drug Sciences, University of Bari 'Aldo Moro', 70125 Bari, Italy., Di Muro E; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy., Castori M; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy., Carella M; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy., Sciruicchio V; Children Epilepsy and EEG Center, Ospedale San Paolo di Bari, 70123 Bari, Italy., de Tommaso M; DiBraiN Department, University of Bari 'Aldo Moro', 70124 Bari, Italy., Liantonio A; Department of Pharmacy-Drug Sciences, University of Bari 'Aldo Moro', 70125 Bari, Italy., De Luca A; Department of Pharmacy-Drug Sciences, University of Bari 'Aldo Moro', 70125 Bari, Italy., La Neve A; DiBraiN Department, University of Bari 'Aldo Moro', 70124 Bari, Italy., Imbrici P; Department of Pharmacy-Drug Sciences, University of Bari 'Aldo Moro', 70125 Bari, Italy.
Source: Biomedicines [Biomedicines] 2024 Jul 31; Vol. 12 (8). Date of Electronic Publication: 2024 Jul 31.
Publication Type: Journal Article
Journal Info: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101691304 Publication Model: Electronic Cited Medium: Print ISSN: 2227-9059 (Print) Linking ISSN: 22279059 NLM ISO Abbreviation: Biomedicines Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: The Biallelic Inheritance of Two Novel SCN1A Variants Results in Developmental and Epileptic Encephalopathy Responsive to Levetiracetam.
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  Data: <searchLink fieldCode="AU" term="%22Dinoi+G%22">Dinoi G</searchLink>; Department of Pharmacy-Drug Sciences, University of Bari 'Aldo Moro', 70125 Bari, Italy.<br /><searchLink fieldCode="AU" term="%22Conte+E%22">Conte E</searchLink>; Department of Pharmacy-Drug Sciences, University of Bari 'Aldo Moro', 70125 Bari, Italy.<br /><searchLink fieldCode="AU" term="%22Palumbo+O%22">Palumbo O</searchLink>; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.<br /><searchLink fieldCode="AU" term="%22Benvenuto+M%22">Benvenuto M</searchLink>; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.<br /><searchLink fieldCode="AU" term="%22Coppola+MA%22">Coppola MA</searchLink>; Department of Pharmacy-Drug Sciences, University of Bari 'Aldo Moro', 70125 Bari, Italy.<br /><searchLink fieldCode="AU" term="%22Palumbo+P%22">Palumbo P</searchLink>; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.<br /><searchLink fieldCode="AU" term="%22Lastella+P%22">Lastella P</searchLink>; Centro Sovraziendale Malattie Rare, UOC Medicina Interna Universitaria 'C. Frugoni', AOU Policlinico Consorziale di Bari, 70124 Bari, Italy.<br /><searchLink fieldCode="AU" term="%22Boccanegra+B%22">Boccanegra B</searchLink>; Department of Pharmacy-Drug Sciences, University of Bari 'Aldo Moro', 70125 Bari, Italy.<br /><searchLink fieldCode="AU" term="%22Di+Muro+E%22">Di Muro E</searchLink>; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.<br /><searchLink fieldCode="AU" term="%22Castori+M%22">Castori M</searchLink>; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.<br /><searchLink fieldCode="AU" term="%22Carella+M%22">Carella M</searchLink>; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.<br /><searchLink fieldCode="AU" term="%22Sciruicchio+V%22">Sciruicchio V</searchLink>; Children Epilepsy and EEG Center, Ospedale San Paolo di Bari, 70123 Bari, Italy.<br /><searchLink fieldCode="AU" term="%22de+Tommaso+M%22">de Tommaso M</searchLink>; DiBraiN Department, University of Bari 'Aldo Moro', 70124 Bari, Italy.<br /><searchLink fieldCode="AU" term="%22Liantonio+A%22">Liantonio A</searchLink>; Department of Pharmacy-Drug Sciences, University of Bari 'Aldo Moro', 70125 Bari, Italy.<br /><searchLink fieldCode="AU" term="%22De+Luca+A%22">De Luca A</searchLink>; Department of Pharmacy-Drug Sciences, University of Bari 'Aldo Moro', 70125 Bari, Italy.<br /><searchLink fieldCode="AU" term="%22La+Neve+A%22">La Neve A</searchLink>; DiBraiN Department, University of Bari 'Aldo Moro', 70124 Bari, Italy.<br /><searchLink fieldCode="AU" term="%22Imbrici+P%22">Imbrici P</searchLink>; Department of Pharmacy-Drug Sciences, University of Bari 'Aldo Moro', 70125 Bari, Italy.
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  Data: <searchLink fieldCode="JN" term="%22101691304%22">Biomedicines</searchLink> [Biomedicines] 2024 Jul 31; Vol. 12 (8). <i>Date of Electronic Publication: </i>2024 Jul 31.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22MDPI+AG%22">MDPI AG </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101691304 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Print <i>ISSN: </i>2227-9059 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2222279059%22">22279059 </searchLink><i>NLM ISO Abbreviation: </i>Biomedicines <i>Subsets: </i>PubMed not MEDLINE
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