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.
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
Description
ISSN:1664-2295
DOI:10.3389/fneur.2023.1092887