Publications by authors named "Xiaoshuang Cao"
Article Synopsis
- The study looked into a disease caused by problems with a gene called CLCN6, which is linked to various issues like learning delays and seizures in a girl.
- Researchers used special techniques like gene sequencing and created a mouse model to understand how a specific change in the CLCN6 gene caused problems with brain health.
- They found that the changed version of the CLCN6 gene blocked important processes in the cells, leading to a buildup of harmful substances and eventually causing brain cell damage.
Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis has been discovered for more than a decade, but the establishment of standardized immunotherapy protocol for pediatric patients still needs more clinical evidence. A multicenter, retrospective study was conducted on pediatric patients diagnosed with anti-NMDAR encephalitis between November 2011 and December 2018. The clinical records including clinical manifestations, immunotherapy strategies, and outcomes were collected and analyzed.
View Article and Find Full Text PDFVesicular chloride/proton exchangers of the CLC family are critically involved in the function of the endosomal-lysosomal pathway. Their dysfunction leads to severe disorders including intellectual disability and epilepsy for ClC-4, Dent's disease for ClC-5, and lysosomal storage disease and osteopetrosis for ClC-7. Here, we report a de novo variant p.
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