X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities
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منابع مشابه
X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities AUTHORS
Christianson syndrome (CS) is an X-linked neurodevelopmental/neurological disorder characterized in males by the following core symptoms that include nonverbal status, intellectual disability, epilepsy, truncal ataxia, postnatal microcephaly and hyperkinesis. CS is caused by mutations in the SLC9A6 gene which encodes a multi-pass transmembrane sodium (potassium)-hydrogen exchanger 6 (NHE6) prot...
متن کاملDmm022780 13..23
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, which encodes a multipass transmembrane sodium (potassium)-hydrogen exchanger 6 (NHE6) protein, func...
متن کاملNovel SLC9A6 mutations in two families with Christianson syndrome.
To the Editor : Mutations in SLC9A6 are associated with Christianson syndrome, a syndromic form of X-linked intellectual disability characterized by severe intellectual disability, acquired microcephaly, seizures and ataxia (1, 2). Only nine mutations and two genomic aberrations involving SLC9A6 have been reported to date (1–7). Here, we report on two German families with novel SLC9A6 mutations...
متن کاملAutism-related behavioral abnormalities in synapsin knockout mice
Several synaptic genes predisposing to autism-spectrum disorder (ASD) have been identified. Nonsense and missense mutations in the SYN1 gene encoding for Synapsin I have been identified in families segregating for idiopathic epilepsy and ASD and genetic mapping analyses have identified variations in the SYN2 gene as significantly contributing to epilepsy predisposition. Synapsins (Syn I/II/III)...
متن کاملX-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal–lysosomal dysfunction
Mutations in solute carrier family 9 isoform 6 on chromosome Xq26.3 encoding sodium-hydrogen exchanger 6, a protein mainly expressed in early and recycling endosomes are known to cause a complex and slowly progressive degenerative human neurological disease. Three resulting phenotypes have so far been reported: an X-linked Angelman syndrome-like condition, Christianson syndrome and corticobasal...
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ژورنال
عنوان ژورنال: Disease Models & Mechanisms
سال: 2015
ISSN: 1754-8411,1754-8403
DOI: 10.1242/dmm.022780