Myoclonic Epilepsy: Case Report of a Mild Phenotype in a Pediatric Patient Expanding Clinical Spectrum of KCNA2 Pathogenic Variants.
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| Title: | Myoclonic Epilepsy: Case Report of a Mild Phenotype in a Pediatric Patient Expanding Clinical Spectrum of KCNA2 Pathogenic Variants. |
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| Authors: | Perilli L; Department of Mother and Child and Urological Sciences, Sapienza University of Rome, Rome, Italy., Mastromoro G; Faculty of Medicine and Dentistry, Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy., Murciano M; Department of Mother and Child and Urological Sciences, Sapienza University of Rome, Rome, Italy.; Department of Emergency Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Amedeo I; Department of Mother and Child and Urological Sciences, Sapienza University of Rome, Rome, Italy., Avenoso F; Department of Mother and Child and Urological Sciences, Sapienza University of Rome, Rome, Italy., Pizzuti A; Faculty of Medicine and Dentistry, Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy., Guido CA; Department of Mother and Child and Urological Sciences, Sapienza University of Rome, Rome, Italy., Spalice A; Department of Mother and Child and Urological Sciences, Sapienza University of Rome, Rome, Italy. |
| Source: | Frontiers in neurology [Front Neurol] 2022 Feb 01; Vol. 12, pp. 806516. Date of Electronic Publication: 2022 Feb 01 (Print Publication: 2021). |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101546899 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2295 (Print) Linking ISSN: 16642295 NLM ISO Abbreviation: Front Neurol Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 35178022 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Myoclonic Epilepsy: Case Report of a Mild Phenotype in a Pediatric Patient Expanding Clinical Spectrum of KCNA2 Pathogenic Variants. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Perilli+L%22">Perilli L</searchLink>; Department of Mother and Child and Urological Sciences, Sapienza University of Rome, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Mastromoro+G%22">Mastromoro G</searchLink>; Faculty of Medicine and Dentistry, Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Murciano+M%22">Murciano M</searchLink>; Department of Mother and Child and Urological Sciences, Sapienza University of Rome, Rome, Italy.; Department of Emergency Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Amedeo+I%22">Amedeo I</searchLink>; Department of Mother and Child and Urological Sciences, Sapienza University of Rome, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Avenoso+F%22">Avenoso F</searchLink>; Department of Mother and Child and Urological Sciences, Sapienza University of Rome, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Pizzuti+A%22">Pizzuti A</searchLink>; Faculty of Medicine and Dentistry, Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Guido+CA%22">Guido CA</searchLink>; Department of Mother and Child and Urological Sciences, Sapienza University of Rome, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Spalice+A%22">Spalice A</searchLink>; Department of Mother and Child and Urological Sciences, Sapienza University of Rome, Rome, Italy. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101546899%22">Frontiers in neurology</searchLink> [Front Neurol] 2022 Feb 01; Vol. 12, pp. 806516. <i>Date of Electronic Publication: </i>2022 Feb 01 (<i>Print Publication: </i>2021). – 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="%22Frontiers+Research+Foundation%22">Frontiers Research Foundation </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101546899 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>1664-2295 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216642295%22">16642295 </searchLink><i>NLM ISO Abbreviation: </i>Front Neurol <i>Subsets: </i>PubMed not MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=35178022 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.3389/fneur.2021.806516 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 806516 Titles: – TitleFull: Myoclonic Epilepsy: Case Report of a Mild Phenotype in a Pediatric Patient Expanding Clinical Spectrum of KCNA2 Pathogenic Variants. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Perilli L – PersonEntity: Name: NameFull: Mastromoro G – PersonEntity: Name: NameFull: Murciano M – PersonEntity: Name: NameFull: Amedeo I – PersonEntity: Name: NameFull: Avenoso F – PersonEntity: Name: NameFull: Pizzuti A – PersonEntity: Name: NameFull: Guido CA – PersonEntity: Name: NameFull: Spalice A IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 02 Text: 2022 Feb 01 Type: published Y: 2022 Identifiers: – Type: issn-print Value: 1664-2295 Numbering: – Type: volume Value: 12 Titles: – TitleFull: Frontiers in neurology Type: main |
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