Article

Modeling Genetic Epileptic Encephalopathies using Brain Organoids

2020-08-23

Abstract excerpt

<h4>Summary</h4> Epileptic encephalopathies (EEs) are a group of disorders associated with intractable seizures, brain development and functional abnormalities, and in some cases, premature death. Pathogenic human germline biallelic mutations in tumor suppressor WW domain-containing oxidoreductase (WWOX) are associated with a relatively mild autosomal-recessive spinocerebellar ataxia-12 (SCAR12) and a more severe...

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Literature Corpus work: 2118ac55-2fe2-5bd9-a876-915bc7fb79b8
DOI: 10.1101/2020.08.23.263236

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