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SMPD4 deficiency disrupts indirect neurogenesis and neuronal migration in gyrencephalic cortex
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DOI：10.1093/brain/awag236.png)
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Abstract
En 中文
Variants in SMPD4 cause severe neurodevelopmental disorders characterized by microcephaly, simplified gyral patterns, and cortical malformations in humans, yet Smpd4 knockout mice exhibit minimal cortical abnormalities, displaying phenotypes primarily restricted to cerebellar defects. This striking species-specific disparity has hindered understanding of the cellular and molecular mechanisms underlying SMPD4-related cortical pathology due to the lack of appropriate gyrencephalic animal models that accurately recapitulate human brain development.
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