Cell type specificity of mosaic chromosome 1q gain resolved by snRNA-seq in a case of epilepsy with hyaline protoplasmic astrocytopathy
Kun Leng, Cathryn René Cadwell, Walter Patrick Devine, Tarık Tihan, Zhongxia Qi, Nilika Shah Singhal, Orit Ariel Glenn, Sherry Kamiya, Arun P. Wiita, Amy Chang Berger, Joseph T.C. Shieh, Erron W. Titus, Mercedes F. Paredes, Vaibhav Upadhyay
The paper uses snRNA-seq to analyze mosaic chromosome 1q gain in a case of epilepsy with hyaline protoplasmic astrocytopathy, finding cell-type-specific gene expression changes in neurons and astrocytes.
Neurology Genetics · Apr 1, 2024Peer-reviewedNeuroscience