DNM1L-related encephalopathy in infancy with Leigh syndrome-like phenotype and suppression-burst

  • Clin Genet. 2016 Nov;90(5):472-474. doi: 10.1111/cge.12805.
K Zaha  1 ,  H Matsumoto  2 ,  M Itoh  3 ,  H Saitsu  4 ,  K Kato  5 ,  M Kato  6 ,  S Ogata  5 ,  K Murayama  7 ,  Y Kishita  8 ,  Y Mizuno  8  9 ,  M Kohda  9 ,  I Nishino  10 ,  A Ohtake  11 ,  Y Okazaki  8  9 ,  N Matsumoto  4 ,  S Nonoyama  1
Affiliations
  • 1. Department of Pediatrics, National Defense Medical College, Tokorozawa, Saitama, Japan.
  • 2. Department of Pediatrics, National Defense Medical College, Tokorozawa, Saitama, Japan. [email protected].
  • 3. Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan. [email protected].
  • 4. Department of human genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
  • 5. Department of Laboratory Medicine, National Defense Medical College, Tokorozawa, Saitama, Japan.
  • 6. Department of Pediatrics, Yamagata University Faculty of Medicine, Yamagata, Yamagata, Japan.
  • 7. Department of Metabolism, Chiba Children's Hospital, Chiba, Japan.
  • 8. Division of Functional Genomics & Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University, Saitama, Japan.
  • 9. Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University, Saitama, Japan.
  • 10. Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
  • 11. Department of Pediatrics, Saitama Medical University, Saitama, Japan.
PMID: 27301544 DOI: 10.1111/cge.12805