Article

Valine and Inflammation Drive Epilepsy in a Mouse Model of ECHS1 Deficiency

2024-06-13

Abstract excerpt

ECHS1 Deficiency (ECHS1D) is a rare and devastating pediatric disease that currently has no defined treatments. This disorder results from missense loss-of-function mutations in the ECHS1 gene that result in severe developmental delays, encephalopathy, hypotonia, and early death. ECHS1 enzymatic activity is necessary for the beta-oxidation of fatty acids and the oxidation of branched-chain amino acids within the...

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Literature Corpus work: 1f9ad618-b916-57be-a39a-e1194f009d7d
DOI: 10.1101/2024.06.13.598697

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