Associated Papers
ESC derived human cortical neurons harboring the NACC1 c.892C > T p.R298W missense mutation exhibit molecular differences from controls that influence neuronal maturation.
Deehan M et al.
Human Molecular Genetics, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
[A case of neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination caused by a variant in NACC1 gene].
Sun DR et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2024
Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant.
Komulainen-Ebrahim J et al.
Movement Disorders Clinical Practice, 2024
Nacc1 Mutation in Mice Models Rare Neurodevelopmental Disorder with Underlying Synaptic Dysfunction.
Deehan MA et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2024
Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center.
Akgun-Dogan O et al.
Frontiers in Genetics, 2024
Case report: A novel de novo variant of NACC1 caused epileptic encephalopathy and intellectual disability.
Wu J et al.
Frontiers in Psychiatry, 2024
Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1.
Schoch K et al.
Orphanet Journal of Rare Diseases, 2023
Increased NMDARs in neurons and glutamine synthetase in astrocytes underlying autistic-like behaviors of Gabrb1-/- mice.
Wang J et al.
Iscience, 2023
Knockout mouse models as a resource for the study of rare diseases.
da Silva-Buttkus P et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2023
Cerebellum and neurodevelopmental disorders: RORα is a unifying force.
Ribeiro S et al.
Frontiers in Cellular Neuroscience, 2023
An intellectual-disability-associated mutation of the transcriptional regulator NACC1 impairs glutamatergic neurotransmission.
Daniel JA et al.
Frontiers in Molecular Neuroscience, 2023
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
Phenotypic and Genetic Complexity in Pediatric Movement Disorders.
Kim MJ et al.
Frontiers in Genetics, 2022
A New Case of de novo Variant c.892C>T (p.Arg298Trp) in NACC1: A First Case Report From China.
Lyu B et al.
Frontiers in Pediatrics, 2021
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.
Boonsawat P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.
Liu Z et al.
Frontiers in Genetics, 2018
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.
Reijnders MRF et al.
Nature Communications, 2017
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
Schoch K et al.
American Journal of Human Genetics, 2017