Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: two new cases and review of the literature.
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| Title: | Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: two new cases and review of the literature. |
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| Authors: | Inuzuka LM; Epilepsy Clinic, Hospital Sírio-Libanês, São Paulo, Brazil; Department of Neurology, University of São Paulo School of Medicine, Brazil. Electronic address: luciana.minakaharada@hsl.org.br., Macedo-Souza LI; Department of Neurology, University of São Paulo School of Medicine, Brazil. Electronic address: ines.genetica@gmail.com., Della-Ripa B; Department of Neurology, University of São Paulo School of Medicine, Brazil. Electronic address: bruno.dellaripa@inisp.com.br., Cabral KSS; Department of Neurology, University of São Paulo School of Medicine, Brazil. Electronic address: kate_souza@yahoo.com.br., Monteiro F; Mendelics Genomic Analysis, São Paulo, Brazil. Electronic address: fabiola.monteiro@mendelics.com.br., Kitajima JP; Mendelics Genomic Analysis, São Paulo, Brazil. Electronic address: joao.kitajima@mendelics.com.br., de Souza Godoy LF; Radiology Department, Hospital Sírio-Libanês, São Paulo, Brazil. Electronic address: fil.godoy@gmail.com., de Souza Delgado D; Radiology Department, Hospital Sírio-Libanês, São Paulo, Brazil. Electronic address: ds.delgado64@gmail.com., Kok F; Mendelics Genomic Analysis, São Paulo, Brazil; Department of Neurology, University of São Paulo School of Medicine, Brazil. Electronic address: fernando.kok@mendelics.com.br., Garzon E; Epilepsy Clinic, Hospital Sírio-Libanês, São Paulo, Brazil; Department of Neurology, University of São Paulo School of Medicine, Brazil. Electronic address: eliana.garzon@inisp.com.br. |
| Source: | Brain & development [Brain Dev] 2020 Feb; Vol. 42 (2), pp. 211-216. Date of Electronic Publication: 2019 Oct 31. |
| Publication Type: | Case Reports; Journal Article; Review |
| Journal Info: | Publisher: Elsevier Country of Publication: Netherlands NLM ID: 7909235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-7131 (Electronic) Linking ISSN: 03877604 NLM ISO Abbreviation: Brain Dev Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 31677917 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: two new cases and review of the literature. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Inuzuka+LM%22">Inuzuka LM</searchLink>; Epilepsy Clinic, Hospital Sírio-Libanês, São Paulo, Brazil; Department of Neurology, University of São Paulo School of Medicine, Brazil. Electronic address: luciana.minakaharada@hsl.org.br.<br /><searchLink fieldCode="AU" term="%22Macedo-Souza+LI%22">Macedo-Souza LI</searchLink>; Department of Neurology, University of São Paulo School of Medicine, Brazil. Electronic address: ines.genetica@gmail.com.<br /><searchLink fieldCode="AU" term="%22Della-Ripa+B%22">Della-Ripa B</searchLink>; Department of Neurology, University of São Paulo School of Medicine, Brazil. Electronic address: bruno.dellaripa@inisp.com.br.<br /><searchLink fieldCode="AU" term="%22Cabral+KSS%22">Cabral KSS</searchLink>; Department of Neurology, University of São Paulo School of Medicine, Brazil. Electronic address: kate&#95;souza@yahoo.com.br.<br /><searchLink fieldCode="AU" term="%22Monteiro+F%22">Monteiro F</searchLink>; Mendelics Genomic Analysis, São Paulo, Brazil. Electronic address: fabiola.monteiro@mendelics.com.br.<br /><searchLink fieldCode="AU" term="%22Kitajima+JP%22">Kitajima JP</searchLink>; Mendelics Genomic Analysis, São Paulo, Brazil. Electronic address: joao.kitajima@mendelics.com.br.<br /><searchLink fieldCode="AU" term="%22de+Souza+Godoy+LF%22">de Souza Godoy LF</searchLink>; Radiology Department, Hospital Sírio-Libanês, São Paulo, Brazil. Electronic address: fil.godoy@gmail.com.<br /><searchLink fieldCode="AU" term="%22de+Souza+Delgado+D%22">de Souza Delgado D</searchLink>; Radiology Department, Hospital Sírio-Libanês, São Paulo, Brazil. Electronic address: ds.delgado64@gmail.com.<br /><searchLink fieldCode="AU" term="%22Kok+F%22">Kok F</searchLink>; Mendelics Genomic Analysis, São Paulo, Brazil; Department of Neurology, University of São Paulo School of Medicine, Brazil. Electronic address: fernando.kok@mendelics.com.br.<br /><searchLink fieldCode="AU" term="%22Garzon+E%22">Garzon E</searchLink>; Epilepsy Clinic, Hospital Sírio-Libanês, São Paulo, Brazil; Department of Neurology, University of São Paulo School of Medicine, Brazil. Electronic address: eliana.garzon@inisp.com.br. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%227909235%22">Brain & development</searchLink> [Brain Dev] 2020 Feb; Vol. 42 (2), pp. 211-216. <i>Date of Electronic Publication: </i>2019 Oct 31. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article; Review – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>Netherlands <i>NLM ID: </i>7909235 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1872-7131 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203877604%22">03877604 </searchLink><i>NLM ISO Abbreviation: </i>Brain Dev <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=31677917 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1016/j.braindev.2019.09.004 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 211 Titles: – TitleFull: Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: two new cases and review of the literature. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Inuzuka LM – PersonEntity: Name: NameFull: Macedo-Souza LI – PersonEntity: Name: NameFull: Della-Ripa B – PersonEntity: Name: NameFull: Cabral KSS – PersonEntity: Name: NameFull: Monteiro F – PersonEntity: Name: NameFull: Kitajima JP – PersonEntity: Name: NameFull: de Souza Godoy LF – PersonEntity: Name: NameFull: de Souza Delgado D – PersonEntity: Name: NameFull: Kok F – PersonEntity: Name: NameFull: Garzon E IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 02 Text: 2020 Feb Type: published Y: 2020 Identifiers: – Type: issn-electronic Value: 1872-7131 Numbering: – Type: volume Value: 42 – Type: issue Value: 2 Titles: – TitleFull: Brain & development Type: main |
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