<i>MCF2</i> is linked to a complex perisylvian syndrome and affects cortical lamination

Abstract excerpt

The combination of congenital bilateral perisylvian syndrome (CBPS) with lower motor neuron dysfunction is 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...

Topics

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• Cerebral Cortex
• CRISPR-Cas Systems
• DNA Transposable Elements
• Epilepsy
• Functional Neuroimaging
• Gene Knockdown Techniques
• Mice, Inbred ICR
• RNA, Small Interfering

Identifiers and source

Literature Corpus work

8c24b89c-6786-5174-a1e0-8532a5180ba3

DOI

10.1101/733444