A novel whole exon deletion in WWOX gene causes early epilepsy, intellectual disability and optic atrophy (scientific article published on 18 November 2014)

Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts

Q28281756

A copy number variation morbidity map of developmental delay

Q29616033

METTL23, a transcriptional partner of GABPA, is essential for human cognition

Q30179391

The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation

Q30570939

Quantification of homozygosity in consanguineous individuals with autosomal recessive disease

Q33995399

The WWOX gene modulates high-density lipoprotein and lipid metabolism

Q35042693

A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development

Q35768420

Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia

Q36451472

The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration

Q37568977

Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).

Q37741152

Common Chromosomal Fragile Site Gene WWOX in Metabolic Disorders and Tumors

Q38187404

A progeroid syndrome with neonatal presentation and long survival maps to 19p13.3p13.2.

Q43707344

Consanguinity and dysmorphology in Arabs

Q45212943

A new form of childhood onset, autosomal recessive spinocerebellar ataxia and epilepsy is localized at 16q21-q23.

Q48182898

P433

issue

P921

main subject

disability

Q12131

intellectual disability

Q183560

disability affecting intellectual abilities

Q3317827

P304

page(s)

17-23

P577

publication date

2014-11-18

P1433

published in

Journal of Molecular Neuroscience

Q15708870

P1476

title

A novel whole exon deletion in WWOX gene causes early epilepsy, intellectual disability and optic atrophy

P478

volume

Reverse relations

cites work (P2860)

Q88887070	A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay
Q26798035	Advancing epilepsy genetics in the genomic era
Q55240423	Association of WWOX rs9926344 polymorphism with poor prognosis of hepatocellular carcinoma.
Q58557266	Early infantile onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy
Q92150549	Loss of Wwox Causes Defective Development of Cerebral Cortex with Hypomyelination in a Rat Model of Lethal Dwarfism with Epilepsy
Q58123045	Modeling WWOX Loss of Function : What Have We Learned?
Q61811404	Novel Homozygous Mutation in the WWOX Gene Causes Seizures and Global Developmental Delay: Report and Review
Q48788494	Novel mutations in WWOX, RARS2, and C10orf2 genes in consanguineous Arab families with intellectual disability.
Q28080922	Pleiotropic Functions of Tumor Suppressor WWOX in Normal and Cancer Cells
Q52919014	Severe CNS involvement in WWOX mutations: Description of five new cases.
Q37663386	Systematic review of autosomal recessive ataxias and proposal for a classification
Q57785565	The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature
Q50541105	Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome.
Q28070247	Tumor Suppressor Genes within Common Fragile Sites Are Active Players in the DNA Damage Response
Q41991686	Tumor Suppressor WWOX inhibits osteosarcoma metastasis by modulating RUNX2 function
Q36096253	W44X mutation in the WWOX gene causes intractable seizures and developmental delay: a case report
Q48309272	WWOX and severe autosomal recessive epileptic encephalopathy: first case in the prenatal period
Q37167514	WWOX dysfunction induces sequential aggregation of TRAPPC6AΔ, TIAF1, tau and amyloid β, and causes apoptosis
Q57797057	WWOX, the FRA16D gene: a target of and a contributor to genomic instability
Q89450477	Wwox deficiency leads to neurodevelopmental and degenerative neuropathies and glycogen synthase kinase 3β-mediated epileptic seizure activity in mice
Q57048955	Wwox deletion leads to reduced GABA-ergic inhibitory interneuron numbers and activation of microglia and astrocytes in mouse hippocampus