X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities

X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities

Christianson syndrome (CS) is an X-linked neurodevelopmental and neurological disorder characterized in males by core symptoms that include non-verbal status, intellectual disability, epilepsy, truncal ataxia, postnatal microcephaly and hyperkinesis. CS is caused by mutations in the SLC9A6 gene, whi...

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Bibliographic Details
Main Authors: Jakub Sikora, Jennifer Leddy, Maria Gulinello, Steven U. Walkley
Format: Article
Language:English
Published: The Company of Biologists 2016-01-01
Series:Disease Models & Mechanisms
Subjects:
Christianson syndrome
Slc9a6
NHE6 protein
Female heterozygotes
X-chromosome inactivation
Mosaicism
Online Access:http://dmm.biologists.org/content/9/1/13

Internet

http://dmm.biologists.org/content/9/1/13

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