Article
Christianson syndrome: spectrum of neuroimaging findings.
Neuropediatrics - 1 Aug 2014
Bosemani Thangamadhan, Zanni Ginevra, Hartman Adam L, Cohen Rony, Huisman Thierry A G M, Bertini Enrico, Poretti Andrea
Abstract excerpt
Christianson syndrome (CS) is caused by mutations in SLC9A6 and is characterized by severe intellectual disability, absent speech, microcephaly, ataxia, seizures, and behavioral abnormalities. The clinical phenotypes of CS and Angelman syndrome (AS) are similar. Differentiation between CS and AS is important in terms of genetic counseling. We report on two children with CS and confirmed mutations in SLC9A6...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.