Case report: Functional analysis of the p.Arg507Trp variant of the PIGT gene supporting the moderate epilepsy phenotype of mutations in the C-terminal region.
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| Title: | Case report: Functional analysis of the p.Arg507Trp variant of the PIGT gene supporting the moderate epilepsy phenotype of mutations in the C-terminal region. |
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| Authors: | Ben Ayed I; Laboratory of Molecular and Cellular Screening Processes (LPCMC), Center of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia.; Medical Genetics Department, University Hedi Chaker Hospital of Sfax, Sfax, Tunisia., Jallouli O; Child Neurology Department, University Hedi Chaker Hospital of Sfax, Sfax, Tunisia.; Research Laboratory 'Neuropédiatrie' LR19ES15, Sfax University, Sfax, Tunisia., Murakami Y; Laboratory of Immunoglycobiology, Research Institute for Microbial Diseases, Osaka University, Suita, Japan., Souissi A; Laboratory of Molecular and Cellular Screening Processes (LPCMC), Center of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia., Mallouli S; Child Neurology Department, University Hedi Chaker Hospital of Sfax, Sfax, Tunisia.; Research Laboratory 'Neuropédiatrie' LR19ES15, Sfax University, Sfax, Tunisia., Bouzid A; Laboratory of Molecular and Cellular Screening Processes (LPCMC), Center of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia., Kamoun F; Child Neurology Department, University Hedi Chaker Hospital of Sfax, Sfax, Tunisia.; Research Laboratory 'Neuropédiatrie' LR19ES15, Sfax University, Sfax, Tunisia., Elloumi I; Laboratory of Molecular and Cellular Screening Processes (LPCMC), Center of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia., Frikha F; Laboratory of Molecular and Cellular Screening Processes (LPCMC), Center of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia., Tlili A; Department of Applied Biology, College of Sciences, University of Sharjah, Sharjah, United Arab Emirates.; Human Genetics and Stem Cell Laboratory, Research Institute of Sciences and Engineering, University of Sharjah, Sharjah, United Arab Emirates., Weckhuysen S; Department of Neurology, University Hospital, Antwerp, Belgium., Kinoshita T; Laboratory of Immunoglycobiology, Research Institute for Microbial Diseases, Osaka University, Suita, Japan.; Center for Infectious Disease Education and Research, Osaka University, Suita, Japan., Triki CC; Child Neurology Department, University Hedi Chaker Hospital of Sfax, Sfax, Tunisia.; Research Laboratory 'Neuropédiatrie' LR19ES15, Sfax University, Sfax, Tunisia., Masmoudi S; Laboratory of Molecular and Cellular Screening Processes (LPCMC), Center of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia. |
| Source: | Frontiers in neurology [Front Neurol] 2023 Mar 09; Vol. 14, pp. 1092887. Date of Electronic Publication: 2023 Mar 09 (Print Publication: 2023). |
| 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 |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 36970549 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Case report: Functional analysis of the p.Arg507Trp variant of the PIGT gene supporting the moderate epilepsy phenotype of mutations in the C-terminal region. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Ben+Ayed+I%22">Ben Ayed I</searchLink>; Laboratory of Molecular and Cellular Screening Processes (LPCMC), Center of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia.; Medical Genetics Department, University Hedi Chaker Hospital of Sfax, Sfax, Tunisia.<br /><searchLink fieldCode="AU" term="%22Jallouli+O%22">Jallouli O</searchLink>; Child Neurology Department, University Hedi Chaker Hospital of Sfax, Sfax, Tunisia.; Research Laboratory 'Neuropédiatrie' LR19ES15, Sfax University, Sfax, Tunisia.<br /><searchLink fieldCode="AU" term="%22Murakami+Y%22">Murakami Y</searchLink>; Laboratory of Immunoglycobiology, Research Institute for Microbial Diseases, Osaka University, Suita, Japan.<br /><searchLink fieldCode="AU" term="%22Souissi+A%22">Souissi A</searchLink>; Laboratory of Molecular and Cellular Screening Processes (LPCMC), Center of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia.<br /><searchLink fieldCode="AU" term="%22Mallouli+S%22">Mallouli S</searchLink>; Child Neurology Department, University Hedi Chaker Hospital of Sfax, Sfax, Tunisia.; Research Laboratory 'Neuropédiatrie' LR19ES15, Sfax University, Sfax, Tunisia.<br /><searchLink fieldCode="AU" term="%22Bouzid+A%22">Bouzid A</searchLink>; Laboratory of Molecular and Cellular Screening Processes (LPCMC), Center of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia.<br /><searchLink fieldCode="AU" term="%22Kamoun+F%22">Kamoun F</searchLink>; Child Neurology Department, University Hedi Chaker Hospital of Sfax, Sfax, Tunisia.; Research Laboratory 'Neuropédiatrie' LR19ES15, Sfax University, Sfax, Tunisia.<br /><searchLink fieldCode="AU" term="%22Elloumi+I%22">Elloumi I</searchLink>; Laboratory of Molecular and Cellular Screening Processes (LPCMC), Center of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia.<br /><searchLink fieldCode="AU" term="%22Frikha+F%22">Frikha F</searchLink>; Laboratory of Molecular and Cellular Screening Processes (LPCMC), Center of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia.<br /><searchLink fieldCode="AU" term="%22Tlili+A%22">Tlili A</searchLink>; Department of Applied Biology, College of Sciences, University of Sharjah, Sharjah, United Arab Emirates.; Human Genetics and Stem Cell Laboratory, Research Institute of Sciences and Engineering, University of Sharjah, Sharjah, United Arab Emirates.<br /><searchLink fieldCode="AU" term="%22Weckhuysen+S%22">Weckhuysen S</searchLink>; Department of Neurology, University Hospital, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Kinoshita+T%22">Kinoshita T</searchLink>; Laboratory of Immunoglycobiology, Research Institute for Microbial Diseases, Osaka University, Suita, Japan.; Center for Infectious Disease Education and Research, Osaka University, Suita, Japan.<br /><searchLink fieldCode="AU" term="%22Triki+CC%22">Triki CC</searchLink>; Child Neurology Department, University Hedi Chaker Hospital of Sfax, Sfax, Tunisia.; Research Laboratory 'Neuropédiatrie' LR19ES15, Sfax University, Sfax, Tunisia.<br /><searchLink fieldCode="AU" term="%22Masmoudi+S%22">Masmoudi S</searchLink>; Laboratory of Molecular and Cellular Screening Processes (LPCMC), Center of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101546899%22">Frontiers in neurology</searchLink> [Front Neurol] 2023 Mar 09; Vol. 14, pp. 1092887. <i>Date of Electronic Publication: </i>2023 Mar 09 (<i>Print Publication: </i>2023). – 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=36970549 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.3389/fneur.2023.1092887 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 1092887 Titles: – TitleFull: Case report: Functional analysis of the p.Arg507Trp variant of the PIGT gene supporting the moderate epilepsy phenotype of mutations in the C-terminal region. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Ben Ayed I – PersonEntity: Name: NameFull: Jallouli O – PersonEntity: Name: NameFull: Murakami Y – PersonEntity: Name: NameFull: Souissi A – PersonEntity: Name: NameFull: Mallouli S – PersonEntity: Name: NameFull: Bouzid A – PersonEntity: Name: NameFull: Kamoun F – PersonEntity: Name: NameFull: Elloumi I – PersonEntity: Name: NameFull: Frikha F – PersonEntity: Name: NameFull: Tlili A – PersonEntity: Name: NameFull: Weckhuysen S – PersonEntity: Name: NameFull: Kinoshita T – PersonEntity: Name: NameFull: Triki CC – PersonEntity: Name: NameFull: Masmoudi S IsPartOfRelationships: – BibEntity: Dates: – D: 09 M: 03 Text: 2023 Mar 09 Type: published Y: 2023 Identifiers: – Type: issn-print Value: 1664-2295 Numbering: – Type: volume Value: 14 Titles: – TitleFull: Frontiers in neurology Type: main |
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