Associated Papers
Molecular Profiling of Polish Pediatric Patients with Epilepsy: A Single-Center Diagnostic Experience Using Next-Generation Sequencing.
Chałupczyńska B et al.
Genes, 2026
Network Hypoactivity in ALG13-CDG: Disrupted Developmental Pathways and E/I Imbalance as Early Drivers of Neurological Features in CDG.
Shah R et al.
Cells, 2026
Clinical and genetic characterization of congenital disorders of glycosylation in 20 Chinese patients.
Zhao P et al.
Orphanet Journal of Rare Diseases, 2025
Are viral vector-mediated therapies compatible with aberrant glycosylation?
Muffels IJJ et al.
Molecular Therapy. Methods & Clinical Development, 2025
Sex differences in the developing human cortex intersect with genetic risk of neurodevelopmental disorders.
Hennick K et al.
Biorxiv : the Preprint Server for Biology, 2025
Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.
Barcia G et al.
Epilepsia Open, 2025
ALG13 loss-of-function alters glycosylation, impairs neuronal maturation, and drives network hypoactivity in a cortical organoid model of CDG.
Shah R et al.
Biorxiv : the Preprint Server for Biology, 2025
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
ALG13-Related Epilepsy: Current Insights and Future Research Directions.
Gao P et al.
Neurochemical Research, 2024
Similarity of Phenotype in Three Male Patients With the c.320A>G Variant in ALG13: Possible Genotype-Phenotype Correlation.
Finnegan R et al.
Molecular Genetics & Genomic Medicine, 2024
ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines.
Shah R et al.
Molecular Genetics and Metabolism, 2024
X-Linked Epilepsies: A Narrative Review.
Bernardo P et al.
International Journal of Molecular Sciences, 2024
Common genes and recurrent causative variants in 957 Asian patients with pediatric epilepsy.
Kim SH et al.
Epilepsia, 2024
Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.
Nagarajan B et al.
Epilepsia Open, 2023
Early Infantile Epileptic Encephalopathy In Asparagine-Linked Glycosylation Thirteen (ALG13) Gene Defect And Dramatic Response With Ketogenic Diet.
Chand P et al.
Jpma. the Journal of the Pakistan Medical Association, 2023
Long-term outcomes in ALG13-Congenital Disorder of Glycosylation.
Shah R et al.
American Journal of Medical Genetics. Part A, 2023
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
Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation.
Dang Do AN et al.
Journal of Inherited Metabolic Disease, 2023
Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice.
Scheffer IE et al.
Developmental Medicine and Child Neurology, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implications.
Krygier M et al.
Frontiers in Genetics, 2023
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
Complex Diagnostics of Non-Specific Intellectual Developmental Disorder.
Levchenko O et al.
International Journal of Molecular Sciences, 2022
Could distal variants in ALG13 lead to atypical clinical presentation?
Accogli A et al.
European Journal of Medical Genetics, 2022
Structural Analysis of the Effect of Asn107Ser Mutation on Alg13 Activity and Alg13-Alg14 Complex Formation and Expanding the Phenotypic Variability of ALG13-CDG.
Mitusińska K et al.
Biomolecules, 2022
Flashing lights and epileptic spasms: should we be routinely performing intermittent photic stimulation in infants?
Braun MH et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2022
Exome first approach to reduce diagnostic costs and time - retrospective analysis of 111 individuals with rare neurodevelopmental disorders.
Klau J et al.
European Journal of Human Genetics : Ejhg, 2022
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
The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals.
Zacher P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.
Alsharhan H et al.
Journal of Inherited Metabolic Disease, 2021
The First Metabolome Analysis in Children with Epilepsy and ALG13-CDG Resulting from c.320A>G Variant.
Paprocka J et al.
Children (basel, Switzerland), 2021
Developmental and epileptic encephalopathy: Personal utility of a genetic diagnosis for families.
Jeffrey JS et al.
Epilepsia Open, 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
Exploring the biological role of postzygotic and germinal de novo mutations in ASD.
Alonso-Gonzalez A et al.
Scientific Reports, 2021
Congenital Disorders of Glycosylation from a Neurological Perspective.
Paprocka J et al.
Brain Sciences, 2021
Association of early-onset epileptic encephalopathy with involuntary movements - Case series and literature review.
Arisaka A et al.
Epilepsy & Behavior Reports, 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
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
Reanalysis of Genomic Sequencing Results in a Clinical Laboratory: Advantages and Limitations.
Won D et al.
Frontiers in Neurology, 2020
X-Linked ALG13 Gene Variant as a Cause of Epileptic Encephalopathy in Girls.
Madaan P et al.
Indian Journal of Pediatrics, 2019