Homozygous mutation, p.Pro304His, in IDH3A, encoding isocitrate dehydrogenase subunit is associated with severe encephalopathy in infancy

Aviva Fattal-Valevski, Hila Eliyahu, N. Itai D. Fraenkel, Ganit Elmaliach, Moran Hausman-Kedem, Avraham Shaag, Dror Mandel, Ophry Pines*, Orly Elpeleg

*Corresponding author for this work

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Neuroscience

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Biochemistry, Genetics and Molecular Biology