Early-Onset Mild Type Leukoencephalopathy Caused by a Homozygous EARS2 Mutation.

  title={Early-Onset Mild Type Leukoencephalopathy Caused by a Homozygous EARS2 Mutation.},
  author={Birce Dilge Taskin and Zeynep Selen Karalok and Esra Gurkas and K{\"u}rşad Aydin and Ummu Aydogmus and Serdar Ceylaner and Kadri Zafer Karaer and Cahide Yilmaz and Phillip Lawrence Pearl},
  journal={Journal of child neurology},
  volume={31 7},
Childhood leukoencephalopathies are a broad class of diseases, which are extremely rare. The treatment and classification of these disorders are both challenging. Nearly half of children presenting with a leukoencephalopathy remain without a specific diagnosis. Leukoencephalopathy with thalamus and brain stem involvement and high lactate (LTBL) is a newly described childhood leukoencephalopathy caused by mutations in the gene encoding a mitochondrial aminoacyl-tRNA synthetase specific for… CONTINUE READING
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