Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy

Lim, J; Shayota, BJ; Lay, E; Elsea, SH; Bekheirnia, MR; Tessier, MEM; Kralik, SF; Rice, GM; Soler-Alfonso, C; Scaglia, F

Soler-Alfonso, C (corresponding author), Baylor Coll Med, Dept Mol & Human Genet, Mark Wallace Tower,6701 Fannin St,Suite 1560, Houston, TX 77030 USA.; Soler-Alfonso, C (corresponding author), Texas Childrens Hosp, Mark Wallace Tower,6701 Fannin St,Suite 1560, Houston, TX 77030 USA.

JOURNAL OF CHILD NEUROLOGY, 2021; 36 (10): 841

Abstract

Ethylmalonic encephalopathy is a rare autosomal recessive mitochondrial disorder caused by pathogenic biallelic variants in the ETHE1 gene. The phenot......

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