Abstract:Developmental and epileptic encephalopathies (DEE) are a genetically diverse group of disorders with similar early clinical presentations. DEE65 is caused by de novo, non-synonymous, gain-of-function mutations inCYFIP2. It presents in early infancy as hypotonia, epileptic spasms and global developmental delay. While modelling loss-of-function mutations can be done using knockdown or knockout techniques to reduce the amount of functional protein, modelling gain-of-function mutations requires different approache… Show more
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