Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X)-Reference-Cited by-同舟云学术

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Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X)

Published:2009-09-09 Issue:2 Volume:18 Page:157-162
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Fullston Tod,Brueton Louise,Willis Tracey,Philip Sunny,MacPherson Lesley,Finnis Merran,Gecz Jozef,Morton Jenny

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2009139.pdf

Reference20 articles.

1. Strømme P, Mangelsdorf ME, Shaw MA et al: Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet 2002; 30: 441–445.

2. Bienvenu T, Poirier K, Friocourt G et al: ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum Mol Genet 2002; 11: 981–991.

3. Kitamura K, Yanazawa M, Sugiyama N et al: Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. Nat Genet 2002; 32: 359–369.

4. Gecz J, Cloosterman D, Partington M : ARX: a gene for all seasons. Curr Opin Genet Dev 2006; 16: 308–316.

5. Colombo E, Galli R, Cossu G, Gecz J, Broccoli V : Mouse orthologue of ARX, a gene mutated in several X-linked forms of mental retardation and epilepsy, is a marker of adult neural stem cells and forebrain GABAergic neurons. Dev Dyn 2004; 231: 631–639.

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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. Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability;International Journal of Molecular Sciences;2022-03-13

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

5. Modeling epileptic spasms during infancy: Are we heading for the treatment yet?;Pharmacology & Therapeutics;2020-08

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