Christianson Syndrome

Common Name(s)

Christianson Syndrome

Christianson syndrome is an X-linked mental retardation syndrome associated with microcephaly, seizures, ataxia, and absent speech.  Many individuals with this condition have a happy demeanor with frequent smiling and unprovoked laughter, similar to those with Angelman syndrome.  Christianson syndrome is caused by mutations in the SLC9A6 gene, which is located within the q24-q27 interval of the X chromosome. There appears to be a range of phenotypes in carrier females, from mental retardation to absence of symptoms.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Christianson Syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Christianson Syndrome" returned 1 free, full-text research articles on human participants. First 3 results:

Natural history of Christianson syndrome.
 

Author(s): Richard J Schroer, Kenton R Holden, Patrick S Tarpey, Maria Giselle Matheus, David A Griesemer, Michael J Friez, Jane Zheng Fan, Richard J Simensen, Petter Strømme, Roger E Stevenson, Michael R Stratton, Charles E Schwartz

Journal: Am. J. Med. Genet. A. 2010 Nov;152A(11):2775-83.

 

Christianson syndrome is an X-linked mental retardation syndrome characterized by microcephaly, impaired ocular movement, severe global developmental delay, hypotonia which progresses to spasticity, and early onset seizures of variable types. Gilfillan et al.2008] reported mutations ...

Last Updated: 27 Oct 2010

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The terms "Christianson Syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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