Article
Loss of symmetric cell division of apical neural progenitors drives<i>DENND5A</i>-related developmental and epileptic encephalopathy
2022-08-26
Abstract excerpt
Developmental and epileptic encephalopathies (DEEs) are a heterogenous group of epilepsies in which altered brain development leads to developmental delay and seizures, with the epileptic activity further negatively impacting neurodevelopment. Identifying the underlying cause of DEEs is essential for progress toward precision therapies. Here we describe a group of individuals with biallelic variants in DENND5A and...
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Identifiers and source
- Literature Corpus work
- a1c4f74d-ae44-5449-babb-e1f5bb1a9222
- DOI
- 10.1101/2022.08.23.22278845
