Christianson syndrome

Definition:

Christianson syndrome (CS) is a rare, X-linked mental retardation syndrome, caused by mutations in SLC9A6. CS is characterized by severe intellectual disability, microcephaly, epilepsy, ataxia, and absent speech. The clinical phenotype of CS mimics Angelman syndrome and CS was initially called X-linked Angelman-like syndrome.

References:

[1]. Gregor D Gilfillan, et al. SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. Am J Hum Genet. 2008 Apr;82(4):1003-10. [Content Brief]

[2]. Thangamadhan Bosemani, et al. Christianson syndrome: spectrum of neuroimaging findings. Neuropediatrics. 2014 Aug;45(4):247-51. [Content Brief]

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