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The ARX story (epilepsy, mental retardation, autism, and cerebral malformations) one gene leads to many phenotypes

Authors :
Sherr, Elliott H.
Source :
Current Opinion in Pediatrics; December 2003, Vol. 15 Issue: 6 p567-571, 5p
Publication Year :
2003

Abstract

Infantile spasms, mental retardation, autism, and dystonia represent disabling diseases for which little etiologic information is available. Mutations in the Aristaless related homeobox gene (ARX) have been found in patients with these conditions. This discovery provides important genetic information and may ultimately offer treatment options for these patients.

Details

Language :
English
ISSN :
10408703 and 1531698X
Volume :
15
Issue :
6
Database :
Supplemental Index
Journal :
Current Opinion in Pediatrics
Publication Type :
Periodical
Accession number :
ejs49402579