Associated Papers
Identification of a novel splice-site WWOX variant with paternal uniparental isodisomy in a patient with infantile epileptic encephalopathy.
Nishino M et al.
American Journal of Medical Genetics. Part A, 2024
Neuroimaging features of WOREE syndrome: a mini-review of the literature.
Battaglia L et al.
Frontiers in Pediatrics, 2023
Epilepsy in patients with WWOX-related epileptic encephalopathy (WOREE) syndrome
Al Baradie R et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2022
Neurological Disorders Associated with WWOX Germline Mutations-A Comprehensive Overview.
Banne E et al.
Cells, 2021
WWOX Loss of Function in Neurodevelopmental and Neurodegenerative Disorders.
Aldaz CM et al.
International Journal of Molecular Sciences, 2020
Germline mutation and aberrant transcripts of WWOX in a syndrome with multiple primary tumors.
Xu A et al.
The Journal of Pathology, 2019
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.
Piard J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Early infantile-onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy.
Davids M et al.
Human Mutation, 2019
WWOX-associated encephalopathies: identification of the phenotypic spectrum and the resulting genotype-phenotype correlation.
Serin HM et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2018
West syndrome, developmental and epileptic encephalopathy, and severe CNS disorder associated with WWOX mutations.
Shaukat Q et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2018
Novel Homozygous Mutation in the WWOX Gene Causes Seizures and Global Developmental Delay: Report and Review.
Ehaideb SN et al.
Translational Neuroscience, 2018
Novel mutations in WWOX, RARS2, and C10orf2 genes in consanguineous Arab families with intellectual disability.
Alkhateeb AM et al.
Metabolic Brain Disease, 2016
A novel whole exon deletion in WWOX gene causes early epilepsy, intellectual disability and optic atrophy.
Ben-Salem S et al.
Journal of Molecular Neuroscience : Mn, 2015
WWOX and severe autosomal recessive epileptic encephalopathy: first case in the prenatal period.
Valduga M et al.
Journal of Human Genetics, 2015
WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.
Mignot C et al.
Journal of Medical Genetics, 2015
The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration.
Abdel-Salam G et al.
Orphanet Journal of Rare Diseases, 2014