Case report: Functional analysis of the p.Arg507Trp variant of the
GPI transamidase
PIGT gene
epilepsy
genotype phenotype correlation
global developmental delay
Journal
Frontiers in neurology
ISSN: 1664-2295
Titre abrégé: Front Neurol
Pays: Switzerland
ID NLM: 101546899
Informations de publication
Date de publication:
2023
2023
Historique:
received:
20
12
2022
accepted:
01
02
2023
entrez:
27
3
2023
pubmed:
28
3
2023
medline:
28
3
2023
Statut:
epublish
Résumé
Pathogenic germline variants in the
Identifiants
pubmed: 36970549
doi: 10.3389/fneur.2023.1092887
pmc: PMC10034188
doi:
Types de publication
Case Reports
Langues
eng
Pagination
1092887Informations de copyright
Copyright © 2023 Ben Ayed, Jallouli, Murakami, Souissi, Mallouli, Bouzid, Kamoun, Elloumi, Frikha, Tlili, Weckhuysen, Kinoshita, Triki and Masmoudi.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
Références
Neurogenetics. 2014 Aug;15(3):193-200
pubmed: 24906948
Brain Dev. 2018 Jan;40(1):53-57
pubmed: 28728837
Genes (Basel). 2016 Nov 29;7(12):
pubmed: 27916860
J Lipid Res. 2016 Jan;57(1):6-24
pubmed: 26563290
Biochim Biophys Acta. 2012 Aug;1821(8):1050-8
pubmed: 22265715
Clin Genet. 2020 Nov;98(5):468-476
pubmed: 32725661
Mol Genet Metab. 2015 Jun-Jul;115(2-3):128-140
pubmed: 25943031
Nucleic Acids Res. 2018 Jul 2;46(W1):W545-W553
pubmed: 29860484
Am J Med Genet A. 2021 Apr;185(4):1081-1090
pubmed: 33403770
Orphanet J Rare Dis. 2020 Mar 27;15(1):78
pubmed: 32220244
Front Genet. 2018 May 08;9:153
pubmed: 29868109
J Med Genet. 2013 Aug;50(8):521-8
pubmed: 23636107
J Biol Chem. 2003 Apr 18;278(16):13959-67
pubmed: 12582175
EMBO J. 2001 Aug 1;20(15):4088-98
pubmed: 11483512
Front Genet. 2021 May 11;12:663643
pubmed: 34046058
Eur J Hum Genet. 2017 Jun;25(6):669-679
pubmed: 28327575
Bioessays. 2003 Apr;25(4):367-85
pubmed: 12655644
Genet Med. 2019 Oct;21(10):2216-2223
pubmed: 30976099