Associated Papers
HECW2 Gene Mutation: A Rare Cause of West Syndrome: A Case Report.
Meena AK et al.
Neurology India, 2025
A Novel HECW2 Variant (c.4354G>A; p. Gly1452Ser) in a Chinese Patient with Developmental Delay, Neurodevelopmental Delay, and Hypotonia.
Zeng L et al.
Molecular Syndromology, 2025
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
Wilson YA et al.
Journal of Child Neurology, 2024
A novel HECW2 variant in an infant with congenital long QT syndrome.
Imanishi R et al.
Human Genome Variation, 2023
Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.
Halfmeyer I et al.
Genes, 2022
Redefining the catalytic HECT domain boundaries for the HECT E3 ubiquitin ligase family.
Kane EI et al.
Bioscience Reports, 2022
First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL.
Rodríguez-García ME et al.
Human Mutation, 2022
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders.
Acharya A et al.
Journal of Medical Genetics, 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
Corrigendum to "HECW2-related disorder in four Japanese patients. Am J Med Genet Part A. First published: 28 May 2021 https://doi.org/10.1002/ajmg.a.62363".
Yanagishita T et al.
American Journal of Medical Genetics. Part A, 2021
A novel likely pathogenic heterozygous HECW2 missense variant in a family with variable expressivity of neurodevelopmental delay, hypotonia, and epileptiform EEG patterns.
Heide EC et al.
American Journal of Medical Genetics. Part A, 2021
HECW2-related disorder in four Japanese patients.
Yanagishita T et al.
American Journal of Medical Genetics. Part A, 2021
Association of HECW2 variants with developmental and epileptic encephalopathy and knockdown of zebrafish hecw2a.
Lu Q et al.
American Journal of Medical Genetics. Part A, 2021
Urine creatine metabolite panel as a screening test in neurodevelopmental disorders.
Bahl S et al.
Orphanet Journal of Rare Diseases, 2020
De Novo HECW2 Mutation Associated With Epilepsy, Developmental Decline, and Intellectual Disability: Case Report and Review of Literature.
Ullman NL et al.
Pediatric Neurology, 2018
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.
Berko ER et al.
Journal of Medical Genetics, 2017