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Introduction: Mosaic gain of chromosome 1q (chr1q) is a recently described driver of malformation of cortical development (MCD) and pharmacoresistant epilepsy. Hyaline protoplasmic astrocytopathy of the neocortex is a rare neuropathological finding seen in cases of pharmacoresistant epilepsy with fo...
ORGANISM(S): Homo sapiens 
2023-10-16 | GSE241521 | GEO
Cell type-specificity of mosaic chromosome 1q gain resolved by single-nucleus RNA-seq in a case of pharmacoresistant epilepsy associated with hyaline protoplasmic astrocytopathy
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