Associated Papers
ALG13-Related Epilepsy: Current Insights and Future Research Directions.
Gao P et al.
Neurochemical Research, 2024
The trap of genetic tag: The importance of pathogenicity prediction tools in the correct interpretation of variants of uncertain significance in the era of high-throughput genome sequencing.
Pellegrino F
Clinical Case Reports, 2023
Case Report: Identification of Two Variants of ALG13 in Families With or Without Seizure and Binocular Strabismus: Phenotypic Spectrum Analysis.
Cai T et al.
Frontiers in Genetics, 2022
An in vitro assay for enzymatic studies on human ALG13/14 heterodimeric UDP-N-acetylglucosamine transferase.
Wang CD et al.
Frontiers in Cell and Developmental Biology, 2022
ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.
Alsharhan H et al.
Journal of Inherited Metabolic Disease, 2021
The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy.
Datta AN et al.
Epilepsia, 2021
Is X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy a congenital disorder of glycosylation?
Berry GT et al.
Epilepsia, 2021
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
Ng BG et al.
Journal of Inherited Metabolic Disease, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
ALG13-CDG with Infantile Spasms in a Male Patient Due to a De Novo ALG13 Gene Mutation.
Galama WH et al.
Jimd Reports, 2018
Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.
Hino-Fukuyo N et al.
Human Genetics, 2015
Girls with Seizures Due to the c.320A>G Variant in ALG13 Do Not Show Abnormal Glycosylation Pattern on Standard Testing.
Smith-Packard B et al.
Jimd Reports, 2015
The genetic landscape of infantile spasms.
Michaud JL et al.
Human Molecular Genetics, 2014
X chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings.
Bissar-Tadmouri N et al.
American Journal of Medical Genetics. Part A, 2014
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
Timal S et al.
Human Molecular Genetics, 2012
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