A Novel Whole Exon Deletion in WWOX Gene Causes Early Epilepsy, Intellectual Disability and Optic Atrophy-Reference-Cited by-同舟云学术

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A Novel Whole Exon Deletion in WWOX Gene Causes Early Epilepsy, Intellectual Disability and Optic Atrophy

Published:2014-11-18 Issue:1 Volume:56 Page:17-23
ISSN:0895-8696
Container-title:Journal of Molecular Neuroscience
language:en
Short-container-title:J Mol Neurosci

Author:

Ben-Salem Salma,Al-Shamsi Aisha M.,John Anne,Ali Bassam R.,Al-Gazali Lihadh

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s12031-014-0463-8.pdf

Reference18 articles.

1. Abdel-Salam G, Thoenes M, Afifi HH, Körber F, Swan D, Bolz HJ (2014) The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration. Orphanet J Rare Dis 9(1):12

2. Akawi NA, Al-Jasmi F, Al-Shamsi AM, Ali BR, Al-Gazali L (2013a) LINS, a modulator of the WNT signaling pathway, is involved in human cognition. Orphanet J Rare Dis 8:87

3. Akawi N, Ali B, AL Gazali L (2013b) A progeroid syndrome with neonatal presentation and long survival maps to 19p13.3p13.2. Birth Defects Res A Clin Mol Teratol 97(7):456–462

4. Akawi NA, Canpolat FE, White SM, Quilis-Esquerra J, Morales Sanchez M, Gamundi MJ, Mochida GH, Walsh CA, Ali BR, Al-Gazali L (2013c) 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. Hum Mutat 34(3):498–505

5. Al-Gazali L, Ali BR (2010) Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE). Hum Mutat 31(5):505–520

Cited by 40 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Identification of a novel splice‐site WWOX variant with paternal uniparental isodisomy in a patient with infantile epileptic encephalopathy;American Journal of Medical Genetics Part A;2024-02-26

2. Loss of fragile WWOX gene leads to senescence escape and genome instability;Cellular and Molecular Life Sciences;2023-10-28

3. WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk;Epilepsia;2023-03-11

4. Expansion of the clinical and molecular spectrum of WWOX ‐related epileptic encephalopathy;American Journal of Medical Genetics Part A;2022-12-19

5. Epilepsy in patients with;Epileptic Disorders;2022-08-01

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