MCF2 is linked to a complex perisylvian syndrome and affects cortical lamination.
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ABSTRACT:
SUBMITTER: Molinard-Chenu A
PROVIDER: S-EPMC6952308 | biostudies-literature | 2020 Jan
REPOSITORIES: biostudies-literature
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MCF2 is linked to a complex perisylvian syndrome and affects cortical lamination.
Molinard-Chenu Aude A Fluss Joël J Laurent Sacha S Laurent Méryle M Guipponi Michel M Dayer Alexandre G AG
Annals of clinical and translational neurology 20191217 1
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 projectio ...[more]
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