Article

Epileptic Encephalopathy Related to CAD Deleterious Variants – Time Depending Treatment Initiation - A Case Series

2025-02-12

Abstract excerpt

Epilepsy, particularly early-onset and drug-resistant forms, presents a significant challenge in pediatric neurology. Inborn errors of metabolism are increasingly recognized as important contributors to these types of epilepsy. Timely diagnosis and treatment are crucial, as they can prevent irreversible metabolic damage and improve clinical outcomes and. Biallelic deleterious variants in CAD gene led CAD deficienc...

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Literature Corpus work: 3e6de458-072c-54e3-92df-cdcccf36dfaa
DOI: 10.20944/preprints202502.0928.v1

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