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A Recurrent

Julia Macintosh1,2, Isabelle Thiffault3,4,5, Tomi Pastinen3,4,6

  • 1Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.

Child Neurology Open
|June 7, 2023
PubMed
Summary
This summary is machine-generated.

New research identifies de novo variants in the EIF2AK2 gene as a cause of leukoencephalopathy. This genetic condition presents in infancy with symptoms similar to Pelizaeus-Merzbacher disease (PMD).

Area of Science:

  • Neurogenetics
  • Molecular Genetics
  • Developmental Neuroscience

Background:

Keywords:
EIF2AK2exome sequencinghypomyelinationleukodystrophy

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  • Leukoencephalopathies are a group of brain disorders characterized by abnormalities in the white matter.
  • Pelizaeus-Merzbacher disease (PMD) is a rare, inherited neurological disorder that affects myelin in the brain.
  • Recent studies have implicated de novo pathogenic variants in EIF2AK2 as a potential cause of leukoencephalopathy.