Natural history of Christianson syndrome.
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ABSTRACT:
SUBMITTER: Schroer RJ
PROVIDER: S-EPMC3698558 | biostudies-other | 2010 Nov
REPOSITORIES: biostudies-other
Publications
Natural history of Christianson syndrome.
Schroer Richard J RJ Holden Kenton R KR Tarpey Patrick S PS Matheus Maria Giselle MG Griesemer David A DA Friez Michael J MJ Fan Jane Zheng JZ Simensen Richard J RJ Strømme Petter P Stevenson Roger E RE Stratton Michael R MR Schwartz Charles E CE
American journal of medical genetics. Part A 20101101 11
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 in SLC9A6, the gene encoding the sodium/hydrogen exchanger NHE6, in the family first reported and in three others. They also noted the clinical similarities to Angelman syndrome and found cerebellar atrophy on MRI an ...[more]
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