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• W2996389670 abstract "Abstract The combination of congenital bilateral perisylvian syndrome (CBPS) with lower motor neuron dysfunction remains unusual and suggests a potential common genetic insult affecting basic neurodevelopmental processes. Here we identify a putatively pathogenic missense mutation in the MCF2 gene in a boy with CBPS . Using in utero electroporation to genetically manipulate cortical neurons during corticogenesis, we demonstrate that the mouse Mcf2 gene controls the embryonic migration of cortical projection neurons. Strikingly, we find that the CBPS‐associated MCF2 mutation impairs cortical laminar positioning, supporting the hypothesis that alterations in the process of embryonic neuronal migration can lead to rare cases of CBPS." @default.
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• W2996389670 date "2019-12-17" @default.
• W2996389670 modified "2023-10-18" @default.
• W2996389670 title "<i>MCF2</i> is linked to a complex perisylvian syndrome and affects cortical lamination" @default.
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• W2996389670 doi "https://doi.org/10.1002/acn3.50949" @default.
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