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Article

Targeting Poison Exons to Treat Developmental and Epileptic Encephalopathy.

Developmental neuroscience - 1 Jan 2021

Aziz Miriam C, Schneider Patricia N, Carvill Gemma L

Abstract excerpt

Developmental and epileptic encephalopathies (DEEs) describe a subset of neurodevelopmental disorders categorized by refractory epilepsy that is often associated with intellectual disability and autism spectrum disorder. The majority of DEEs are now known to have a genetic basis with de novo coding variants accounting for the majority of cases. More recently, a small number of individuals have been identified...

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PMID: 33971653
DOI: 10.1159/000516143

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