Article

Improvement on BAF53B mutation caused developmental and epileptic encephalopathy with a ketogenic diet

2022-08-19

Abstract excerpt

<title>Abstract</title> <p>Genetic mutation is the leading cause of Developmental and Epileptic Encephalopathy (DEE, OMIM 308350), a spectrum of disorders characterized by severe epilepsy and usually begins in infancy, accompanied with psychomotor development arrest and hypsarrhythmia on electroencephalogram (EEG). Up till now, mutations of 101 genes were confirmed as the cause of DEE, and were categorized accord...

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Literature Corpus work: 27128074-e11b-541e-a0fa-924df518d6ed
DOI: 10.21203/rs.3.rs-1921317/v1

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