Expansion of the clinical and molecular spectrum of <i>WWOX</i> ‐related epileptic encephalopathy-Reference-Cited by-同舟云学术

Expansion of the clinical and molecular spectrum of WWOX ‐related epileptic encephalopathy

Published:2022-12-19 Issue:3 Volume:191 Page:776-785
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Chong Shuk Ching¹²^ORCID,Cao Ye¹²³⁴^ORCID,Fung Eva L. W.¹,Kleppe Soledad⁵,Gripp Karen W.⁶,Hertecant Jozef⁷,El‐Hattab Ayman W.⁸^ORCID,Suleiman Jehan⁹¹⁰^ORCID,Clark Gary¹¹,von Allmen Gretchen¹²,Rodziyevska Olga¹²,Lewis Richard A.³¹³¹⁴^ORCID,Rosenfeld Jill A.³^ORCID,Dong Jie¹⁵,Wang Xia³¹⁵,Miller Marcus J.³¹⁵¹⁶,Bi Weimin³¹⁵,Liu Pengfei³¹⁵^ORCID,Scaglia Fernando²³⁴¹⁴^ORCID,

Affiliation:

1. Department of Paediatrics The Chinese University of Hong Kong Hong Kong China

2. Joint BCM‐CUHK Center of Medical Genetics Chinese University of Hong Kong Hong Kong China

3. Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA

4. Department of Obstetrics and Gynecology The Chinese University of Hong Kong Hong Kong China

5. Unidad de Metabolismo, Hospital de Niños Ricardo Gutiérrez Buenos Aires Argentina

6. Division of Medical Genetics A. I. du Pont Hospital for Children/Nemours Wilmington Delaware USA

7. Division of Genetic and Metabolic Disorders, Departments of Pediatrics Tawam Hospital Al Ain United Arab Emirates

8. Department of Clinical Sciences College of Medicine, University of Sharjah Sharjah United Arab Emirates

9. Division of Neurology, Department of Pediatrics Tawam Hospital Al Ain United Arab Emirates

10. Department of Pediatrics College of Medicine and Health Sciences, United Arab Emirates University Al Ain United Arab Emirates

11. Neurology and Developmental Neuroscience Baylor College of Medicine, Neurology Service, Texas Children's Hospital Houston Texas USA

12. Division of Child Neurology, Department of Pediatrics McGovern Medical School Houston Texas USA

13. Department of Ophthalmology Baylor College of Medicine Houston Texas USA

14. Texas Children's Hospital Houston Texas USA

15. Baylor Genetics Houston Texas USA

16. Department of Medical and Molecular Genetics Indiana University School of Medicine Indianapolis Indiana USA

Funder

Common Fund

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63074

Reference40 articles.

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

2. WWOX Loss of Function in Neurodevelopmental and Neurodegenerative Disorders

3. Neurological Disorders Associated with WWOX Germline Mutations—A Comprehensive Overview

4. WWOX, a novel WW domain‐containing protein mapping to human chromosome 16q23.3‐24.1, a region frequently affected in breast cancer;Bednarek A. K.;Cancer Research,2000

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

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1. Neuroimaging features of WOREE syndrome: a mini-review of the literature;Frontiers in Pediatrics;2023-12-15

2. Identification of compound heterozygous deletion of the WWOX gene in WOREE syndrome;BMC Medical Genomics;2023-11-16

3. Identification of compound heterozygous deletions in the WWOX gene caused WOREE syndrome by whole exome sequencing;2023-03-24

4. Antineoplastic Nature of WWOX in Glioblastoma Is Mainly a Consequence of Reduced Cell Viability and Invasion;Biology;2023-03-17