Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX-Reference-Cited by-同舟云学术

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Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX

Published:2002-08 Issue:5 Volume:24 Page:266-268
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Strømme Petter,Mangelsdorf Marie E,Scheffer Ingrid E,Gécz Jozef

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,General Medicine,Pediatrics, Perinatology, and Child Health

Reference10 articles.

1. Infantile spasms;Wong;Pediatr Neurol,2001

2. Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy;Strømme;Nat Genet,2002

3. The X-linked infantile spasms syndrome (MIM 308350) maps to Xp11.4-Xpter in two pedigrees;Claes;Ann Neurol,1997

4. Confirmation of linkage in X-linked infantile spasms (West syndrome) and refinement of the disease locus to Xp21.3–Xp22.1;Bruyere;Clin Genet,1999

5. X linked mental retardation and infantile spasms in a family: new clinical data and linkage to Xp11.4–Xp22.11;Strømme;J Med Genet,1999

Cited by 167 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. Dual effects ofARXpoly-alanine mutations in human cortical and interneuron development;2024-01-25

2. Replication of previous autism-GWAS hits suggests the association between NAA1, SORCS3, and GSDME and autism in the Han Chinese population;Heliyon;2024-01

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

4. Cortical Parvalbumin-Positive Interneuron Development and Function Are Altered in the APC Conditional Knockout Mouse Model of Infantile and Epileptic Spasms Syndrome;The Journal of Neuroscience;2023-01-30

5. Adrenocorticotropic Hormone-Induced Dyskinesia and Probable Sudden Unexpected Death in an Infant with Early Infantile Developmental and Epileptic Encephalopathy—Infantile Epileptic Spasm Syndrome Overlap;Journal of Pediatric Neurology;2022-10-19

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