ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2018
WWOX-associated encephalopathies: identification of the phenotypic spectrum and the resulting genotype-phenotype correlation.
Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
What it found
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Who cites it
10 citing papers in PubMed, 14 citations in OpenAlex.
- WWOX Mutation as a Rare Cause of Neonatal-Infantile Parkinsonism Mimicking a Neurotransmitter Disorder: A Case Report.Journal of paediatrics and child health · 2026Article
- Genetic regulation of human brain proteome reveals proteins implicated in psychiatric disorders.Molecular psychiatry · 2024Article
- Developmental epileptic encephalopathy caused by homozygosity of a c.172+1G>C variant in the WWOX gene.Molecular genetics & genomic medicine · 2024Article
- TheeLife · 2023Article
- WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk.Epilepsia · 2023Article
- WWOX P47T partial loss-of-function mutation induces epilepsy, progressive neuroinflammation, and cerebellar degeneration in mice phenocopying human SCAR12.Progress in neurobiology · 2023Article
- Neuroimaging features of WOREE syndrome: a mini-review of the literature.Frontiers in pediatrics · 2023Review
- Neurological Disorders Associated with WWOX Germline Mutations-A Comprehensive Overview.Cells · 2021Review
- WWOX Loss of Function in Neurodevelopmental and Neurodegenerative Disorders.International journal of molecular sciences · 2020Review
- TheExperimental biology and medicine (Maywood, N.J.) · 2020Review
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Epileptic encephalopathies are a group of disorders in which epileptiform abnormalities cause progressive deterioration in cerebral function. Genetic causes have been described in several of the epileptic encephalopathies, and many previously unknown genes have been identified. WW domain-containing oxidoreductase (WWOX) has recently been implicated in autosomal recessive spinocerebellar ataxia type 12 (SCAR12) and severe early-onset epileptic encephalopathy. With whole-exome sequencing, we identified a homozygous WWOX missense mutation, p.Leu239Arg, in a girl from a consanguineous family with psychomotor developmental delay, acquired microcephaly, and epileptic seizures. WWOX-related epileptic encephalopathy is a rare condition but it should be considered in cases having early epileptic spasms and parental consanguinity.
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Registered trials
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