A novel mutation in the OAR domain of the ARX gene-Reference-Cited by-同舟云学术

A novel mutation in the OAR domain of the ARX gene

Published:2017-01-23 Issue:2 Volume:5 Page:170-174
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Tapie Alejandra¹,Pi-Denis Natalia¹,Souto Jorge¹,Vomero Alejandra²,Peluffo Gabriel²,Boidi María¹,Ciganda Martín³,Curbelo Nicolás¹,Raggio Victor¹,Roche Leda¹,Pastro Lucía¹³

Affiliation:

1. Facultad de Medicina; Departamento de Genética; Universidad de la República Oriental del Uruguay; Montevideo Uruguay

2. Facultad de Medicina; Departamento de Pediatría; Universidad de la República Oriental del Uruguay; Montevideo Uruguay

3. Facultad de Ciencias; Laboratorio de Interacciones Moleculares; Universidad de la República Oriental del Uruguay; Montevideo Uruguay

Funder

Agencia Nacional de Investigación e Innovación

Publisher

Wiley

Subject

General Medicine

Reference27 articles.

1. Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX;Stromme;Brain Dev.,2002

2. X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX;Scheffer;Neurology,2002

3. Depienne , C. I. Gourfinkel-An S. Baulac E. LeGuern 2012 Genes in infantile epileptic encephalopathies

4. Mutations in ARX result in several defects involving GABAergic neurons;Friocourt;Front Cell Neurosci.,2010

5. Evidence for tangential migration disturbances in human lissencephaly resulting from a defect in LIS1, DCX and ARX genes;Marcorelles;Acta Neuropathol.,2010

Cited by 6 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. Type 1 early infantile epileptic encephalopathy: A case report and literature review;Molecular Genetics & Genomic Medicine;2024-02

2. Further characterisation ofARX-related disorders in females due to inherited or de novo variants;Journal of Medical Genetics;2023-10-25

3. Lessons from a transcription factor: Alx1 provides insights into gene regulatory networks, cellular reprogramming, and cell type evolution;Current Topics in Developmental Biology;2022

4. Aristaless-Related Homeobox (ARX): Epilepsy Phenotypes beyond Lissencephaly and Brain Malformations;Journal of Pediatric Neurology;2021-04-13

5. Splice variant in ARX leading to loss of C‐terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy;American Journal of Medical Genetics Part A;2019-05-30