Associated Papers
Autosomal recessive frameshift variant broadens HECW2-related disease spectrum.
Dehghanzad R et al.
European Journal of Medical Genetics, 2025
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
Clinical variants paired with phenotype: A rich resource for brain gene curation.
Chopra M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
A novel HECW2 variant in an infant with congenital long QT syndrome.
Imanishi R et al.
Human Genome Variation, 2023
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
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
Rett Syndrome Spectrum in Monogenic Developmental-Epileptic Encephalopathies and Epilepsies: A Review.
Spagnoli C et al.
Genes, 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
Association of early-onset epileptic encephalopathy with involuntary movements - Case series and literature review.
Arisaka A et al.
Epilepsy & Behavior Reports, 2021
Rett-like features and cortical visual impairment in a Japanese patient with HECW2 mutation.
Nakamura H et al.
Brain & Development, 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
Mutations in HECW2 are associated with intellectual disability and epilepsy.
Halvardson J et al.
Journal of Medical Genetics, 2016