Sleep and daytime behavior in individuals with Christianson Syndrome.
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DOI: 10.1016/j.sleep.2021.11.007
Abstract: BACKGROUND The objectives of this study were to: 1) characterize the sleep behaviors and symptoms of individuals with Christianson Syndrome (CS) by means of validated questionnaires; and 2) determine their associations with daytime emotional and… read more here.
Keywords: christianson syndrome; sleep daytime; individuals christianson; daytime behavior ... See more keywords
A novel splicing mutation in SLC9A6 in a boy with Christianson syndrome
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DOI: 10.1038/s41439-019-0046-x
Abstract: A loss of function mutation in SLC9A6 (Xq26.3) is responsible for Christianson syndrome in males. We identified a novel splicing mutation (NM_006359.2:c.1141-8C>A) of SLC9A6 in a seven-year-old boy with microcephaly, severe developmental delay, and intractable… read more here.
Keywords: slc9a6; mutation slc9a6; novel splicing; christianson syndrome ... See more keywords
Mixed Neurodevelopmental and Neurodegenerative Pathology in Nhe6-Null Mouse Model of Christianson Syndrome
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DOI: 10.1523/eneuro.0388-17.2017
Abstract: Abstract Christianson syndrome (CS) is an X-linked disorder resulting from loss-of-function mutations in SLC9A6, which encodes the endosomal Na+/H+ exchanger 6 (NHE6). Symptoms include early developmental delay, seizures, intellectual disability, nonverbal status, autistic features, postnatal… read more here.
Keywords: neurodegenerative pathology; christianson syndrome; pathology; nhe6 null ... See more keywords