HAL (France)
open access
De novo monoallelic Reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanism
Reelin (RELN) is a secreted glycoprotein essential for cerebral cortex development. In humans, recessive RELN variants cause cortical and cerebellar malformations, while heterozygous variants were associated with epilepsy, autism, and mild cortical abnormalities. However, the functional effects of R
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