SCN2A Pathogenic Variants and Epilepsy: Heterogeneous Clinical, Genetic and Diagnostic Features.
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| Title: | SCN2A Pathogenic Variants and Epilepsy: Heterogeneous Clinical, Genetic and Diagnostic Features. |
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| Authors: | Epifanio R; Clinical Neurophysiology Unit, Scientific Institute IRCCS E. Medea, 23842 Bosisio Parini, LC, Italy., Giorda R; Molecular Biology Laboratory, Scientific Institute IRCCS E. Medea, 23842 Bosisio Parini, LC, Italy., Merlano MC; Royal University Hospital, University of Saskatchewan, Saskatoon, SK S7N 0W8, Canada., Zanotta N; Clinical Neurophysiology Unit, Scientific Institute IRCCS E. Medea, 23842 Bosisio Parini, LC, Italy., Romaniello R; Clinical Neurophysiology Unit, Scientific Institute IRCCS E. Medea, 23842 Bosisio Parini, LC, Italy., Marelli S; Clinical Neurophysiology Unit, Scientific Institute IRCCS E. Medea, 23842 Bosisio Parini, LC, Italy., Russo S; Cytogenetics and Molecular Genetics Laboratory, Istituto Auxologico Italiano IRCCS, 20145 Milan, MI, Italy., Cogliati F; Cytogenetics and Molecular Genetics Laboratory, Istituto Auxologico Italiano IRCCS, 20145 Milan, MI, Italy., Bassi MT; Molecular Biology Laboratory, Scientific Institute IRCCS E. Medea, 23842 Bosisio Parini, LC, Italy., Zucca C; Clinical Neurophysiology Unit, Scientific Institute IRCCS E. Medea, 23842 Bosisio Parini, LC, Italy. |
| Source: | Brain sciences [Brain Sci] 2021 Dec 24; Vol. 12 (1). Date of Electronic Publication: 2021 Dec 24. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: MDPI Country of Publication: Switzerland NLM ID: 101598646 Publication Model: Electronic Cited Medium: Print ISSN: 2076-3425 (Print) Linking ISSN: 20763425 NLM ISO Abbreviation: Brain Sci Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 35053762 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: SCN2A Pathogenic Variants and Epilepsy: Heterogeneous Clinical, Genetic and Diagnostic Features. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Epifanio+R%22">Epifanio R</searchLink>; Clinical Neurophysiology Unit, Scientific Institute IRCCS E. Medea, 23842 Bosisio Parini, LC, Italy.<br /><searchLink fieldCode="AU" term="%22Giorda+R%22">Giorda R</searchLink>; Molecular Biology Laboratory, Scientific Institute IRCCS E. Medea, 23842 Bosisio Parini, LC, Italy.<br /><searchLink fieldCode="AU" term="%22Merlano+MC%22">Merlano MC</searchLink>; Royal University Hospital, University of Saskatchewan, Saskatoon, SK S7N 0W8, Canada.<br /><searchLink fieldCode="AU" term="%22Zanotta+N%22">Zanotta N</searchLink>; Clinical Neurophysiology Unit, Scientific Institute IRCCS E. Medea, 23842 Bosisio Parini, LC, Italy.<br /><searchLink fieldCode="AU" term="%22Romaniello+R%22">Romaniello R</searchLink>; Clinical Neurophysiology Unit, Scientific Institute IRCCS E. Medea, 23842 Bosisio Parini, LC, Italy.<br /><searchLink fieldCode="AU" term="%22Marelli+S%22">Marelli S</searchLink>; Clinical Neurophysiology Unit, Scientific Institute IRCCS E. Medea, 23842 Bosisio Parini, LC, Italy.<br /><searchLink fieldCode="AU" term="%22Russo+S%22">Russo S</searchLink>; Cytogenetics and Molecular Genetics Laboratory, Istituto Auxologico Italiano IRCCS, 20145 Milan, MI, Italy.<br /><searchLink fieldCode="AU" term="%22Cogliati+F%22">Cogliati F</searchLink>; Cytogenetics and Molecular Genetics Laboratory, Istituto Auxologico Italiano IRCCS, 20145 Milan, MI, Italy.<br /><searchLink fieldCode="AU" term="%22Bassi+MT%22">Bassi MT</searchLink>; Molecular Biology Laboratory, Scientific Institute IRCCS E. Medea, 23842 Bosisio Parini, LC, Italy.<br /><searchLink fieldCode="AU" term="%22Zucca+C%22">Zucca C</searchLink>; Clinical Neurophysiology Unit, Scientific Institute IRCCS E. Medea, 23842 Bosisio Parini, LC, Italy. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101598646%22">Brain sciences</searchLink> [Brain Sci] 2021 Dec 24; Vol. 12 (1). <i>Date of Electronic Publication: </i>2021 Dec 24. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22MDPI%22">MDPI </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101598646 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Print <i>ISSN: </i>2076-3425 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2220763425%22">20763425 </searchLink><i>NLM ISO Abbreviation: </i>Brain Sci <i>Subsets: </i>PubMed not MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=35053762 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.3390/brainsci12010018 Languages: – Code: eng Text: English Titles: – TitleFull: SCN2A Pathogenic Variants and Epilepsy: Heterogeneous Clinical, Genetic and Diagnostic Features. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Epifanio R – PersonEntity: Name: NameFull: Giorda R – PersonEntity: Name: NameFull: Merlano MC – PersonEntity: Name: NameFull: Zanotta N – PersonEntity: Name: NameFull: Romaniello R – PersonEntity: Name: NameFull: Marelli S – PersonEntity: Name: NameFull: Russo S – PersonEntity: Name: NameFull: Cogliati F – PersonEntity: Name: NameFull: Bassi MT – PersonEntity: Name: NameFull: Zucca C IsPartOfRelationships: – BibEntity: Dates: – D: 24 M: 12 Text: 2021 Dec 24 Type: published Y: 2021 Identifiers: – Type: issn-print Value: 2076-3425 Numbering: – Type: volume Value: 12 – Type: issue Value: 1 Titles: – TitleFull: Brain sciences Type: main |
| ResultId | 1 |