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@ARTICLE{Hengel:140192,
      author       = {Hengel, H. and Keimer, R. and Deigendesch, W. and Rieß, A.
                      and Marzouqa, H. and Zaidan, J. and Bauer, P. and Schöls,
                      L.},
      title        = {{GPT}2 mutations cause developmental encephalopathy with
                      microcephaly and features of complicated hereditary spastic
                      paraplegia.},
      journal      = {Clinical genetics},
      volume       = {94},
      number       = {3-4},
      issn         = {0009-9163},
      address      = {Malden, Mass.},
      publisher    = {Wiley},
      reportid     = {DZNE-2020-06514},
      pages        = {356-361},
      year         = {2018},
      abstract     = {Various genetic defects can cause intellectual and
                      developmental disabilities (IDDs). Often IDD is a symptom of
                      a more complex neurodevelopmental or neurodegenerative
                      syndrome. Identifying syndromic patterns is substantive for
                      diagnostics and for understanding the pathomechanism of a
                      disease. Recessive glutamate pyruvate transaminase (GPT2)
                      mutations have recently been associated with IDD in 4
                      families. Here, we report a novel recessive GPT2 stop
                      mutation p.Gln24* causing a complex IDD phenotype in a
                      homozygous state in 5 patients from 2 consanguineous Arab
                      families. By compiling clinical information of these
                      individuals and previously described GPT2 patients a
                      recognizable neurodevelopmental and potentially
                      neurodegenerative phenotype can be assigned consisting of
                      intellectual disability, pyramidal tract affection with
                      spastic paraplegia, microcephaly and frequently epilepsy.
                      Because of the consistent presence of pyramidal tract
                      affection in GPT2 patients, we further suggest that GPT2
                      mutations should be considered in cases with complex
                      hereditary spastic paraplegia.},
      keywords     = {Adolescent / Adult / Brain Diseases: genetics / Child /
                      Consanguinity / Female / Humans / Male / Mutation / Pedigree
                      / Spastic Paraplegia, Hereditary: genetics / Transaminases:
                      genetics / GPT2 protein, human (NLM Chemicals) /
                      Transaminases (NLM Chemicals)},
      cin          = {AG Gasser / AG Schöls},
      ddc          = {610},
      cid          = {I:(DE-2719)1210000 / I:(DE-2719)5000005},
      pnm          = {345 - Population Studies and Genetics (POF3-345)},
      pid          = {G:(DE-HGF)POF3-345},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:29882329},
      doi          = {10.1111/cge.13390},
      url          = {https://pub.dzne.de/record/140192},
}