Article

CAD mutation-associated developmental and epileptic encephalopathy-50 with dramatic response to uridine therapy: A case report and a review of the literature

2023-10-16

Abstract excerpt

<h4>Background: </h4> Developmental and epileptic encephalopathy-50 (DEE-50) is a rare clinical condition believed to be caused by a mutation in the CAD gene and is associated with a bleak prognosis. CAD-related diseases have a wide range of clinical manifestations and other symptoms that may be easily overlooked. Like other rare diseases, the clinical manifestations and therapeutic effects of DEE-50 necessitate f...

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Literature Corpus work: abbfd96b-cb3b-504a-aa68-a23f520ae482
DOI: 10.21203/rs.3.rs-3421569/v1

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