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- W4312695976 abstract "Purpose: 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 hypsarrhythmiaon electroencephalogram (EEG).Up till now, mutations of 101 genes were confirmed as the cause of DEE, and were categorized accordingly into 101 different sub-types (DEE1-101). Here, we report a case of DEE76 with a tortuous path to genetic diagnosis and an illuminating treatment of ketogenic diet (KD)." @default.
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- W4312695976 date "2022-01-01" @default.
- W4312695976 modified "2023-09-25" @default.
- W4312695976 title "Improvement on BAF53B Mutation Caused Developmental and Epileptic Encephalopathy with a Ketogenic Diet" @default.
- W4312695976 doi "https://doi.org/10.26502/jfsnr.2642-110000118" @default.
- W4312695976 hasPublicationYear "2022" @default.
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