A novel homozygous PIGO mutation associated with severe infantile epileptic encephalopathy, profound developmental delay and psychomotor retardation: structural and 3D modelling investigations and genotype-phenotype correlation.

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作者： Ameni,Aguech ^[1] ; Lamia,Sfaihi ^[2] ; Olfa,Alila-Fersi ^[3] ; Roeya,Kolsi ^[4] ; Abdelaziz,Tlili ^[2] ; Thouraya,Kammoun ^[3] ; Ahmed,Fendri ^[5] ; Faiza,Fakhfakh ^[2]

作者单位： Molecular Genetics and Functional Laboratory, Faculty of Sciences of Sfax, University of Sfax, Sfax, Tunisia. aguechameni@gmail.com. ^[1] Pediatrics Department, Hedi Chaker University Hospital, 3029, Sfax, Tunisia. ^[2] Faculty of Medecine of Sfax, University of Sfax, Avenue Magida Boulila, 3029, Sfax, Tunisia. ^[3] Molecular Genetics and Functional Laboratory, Faculty of Sciences of Sfax, University of Sfax, Sfax, Tunisia. ^[4] Department of Applied Biology, College of Sciences, University of Sharjah, Sharjah, United Arab Emirates. ^[5] Laboratory of Biochemistry and Enzymatic Engineering of Lipases, Engineering National School of Sfax (ENIS), University of Sfax, Sfax, Tunisia. ^[6] Molecular Genetics and Functional Laboratory, Faculty of Sciences of Sfax, University of Sfax, Sfax, Tunisia. faiza.fakhfakh02@gmail.com. ^[7]

关键词 Epileptic encephalopathy Exome sequencing Inherited glycosylphosphatidylinositol deficiency (IGD)Molecular 3D modelling PIGO gene

主题词人类(Humans);碱性磷酸酶(Alkaline Phosphatase);膜蛋白质类(Membrane Proteins);癫痫(Epilepsy);遗传关联研究(Genetic Association Studies);突变(Mutation)

DOI 10.1007/s11011-023-01276-6

PMID 37656370

发布时间 2023-11-24

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