Associated Papers
Autosomal recessive frameshift variant broadens HECW2-related disease spectrum.
Dehghanzad R et al.
European Journal of Medical Genetics, 2025
The Complex Etiology of Epilepsy: Genetic Analysis and HLA Association in Patients in the Middle East.
Fadda A et al.
International Journal of Molecular Sciences, 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
A novel HECW2 variant in an infant with congenital long QT syndrome.
Imanishi R et al.
Human Genome Variation, 2023
37280227 (PubMed )
Supplement: 41439_2023_245_MOESM1_ESM.xlsx › Sheet1
Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice.
Scheffer IE et al.
Developmental Medicine and Child Neurology, 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
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