Anna Marcé-Grau

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Júlia Sala-Coromina, Anna Marcé-Grau, Bárbara Masotto, Marta Codina et autres

OBJECTIVE: PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)-anchor biosynthesis pathway. While promoter-region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding-region mutations result in a …

es, Tunisie, jp (code pays fourni par la source)

Additional file 1: Table S1. of GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females

Anna Marcé-Grau, James Dalton, Javier López-Pisón, María García-Jiménez et autres

Sequence alignment as calculated by NCBI-BLAST between human Gαo (Query) and mouse Gαo (Sbjct, PDB id: 3C7K). (DOC 69 kb)

Additional file 1: Table S1. of GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females

Anna Marcé-Grau, James Dalton, Javier López-Pisón, María García-Jiménez et autres

Sequence alignment as calculated by NCBI-BLAST between human Gαo (Query) and mouse Gαo (Sbjct, PDB id: 3C7K). (DOC 69 kb)