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@ARTICLE{Ritter:188473,
      author       = {Ritter, Christian and Goebel, C. and Liebig, T. and
                      Kaminsky, E. and Fink, Gereon Rudolf and Lehmann, H. C.},
      title        = {{A}n epigenetic cause of seizures and brain calcification:
                      pseudohypoparathyroidism},
      journal      = {The lancet / Neurology},
      volume       = {385},
      number       = {9979},
      issn         = {1474-4422},
      address      = {London},
      publisher    = {Lancet Publ. Group},
      reportid     = {FZJ-2015-01848},
      pages        = {1802},
      year         = {2015},
      abstract     = {A 21-year-old right-handed student presented to our
                      neurological department in March, 2014, after a first
                      seizure. He had been bicycling when he suddenly fell from
                      his bike and developed generalised tonic-clonic movements
                      lasting about 5 min, witnessed by a passer-by. On admission
                      he was somnolent but fully orientated. He had no relevant
                      medical or family history and no history of substance abuse.
                      Physical examination showed enuresis and short stature
                      (1·66 m) but was otherwise normal. A cerebral CT scan to
                      exclude traumatic brain injury showed extensive brain
                      calcifications in the basal ganglia and frontal lobes
                      (figure). Laboratory test results showed very high creatine
                      kinase concentrations (1913 U/L; normal <170 U/L), reduced
                      serum calcium concentrations (1·13 mmol/L; 2·2–2·6
                      mmol/L), and raised serum phosphate concentrations (1·98
                      mmol/L; 0·48–1·45 mmol/L). Clinical signs of
                      hypocalcaemia such as carpopedal spasm or Chvostek sign were
                      absent. Electroencephalogram (EEG) the next day showed
                      dysrhythmia with diffuse slowing.},
      cin          = {INM-3},
      ddc          = {610},
      cid          = {I:(DE-Juel1)INM-3-20090406},
      pnm          = {572 - (Dys-)function and Plasticity (POF3-572)},
      pid          = {G:(DE-HGF)POF3-572},
      typ          = {PUB:(DE-HGF)16},
      UT           = {WOS:000353726000037},
      pubmed       = {pmid:25943944},
      doi          = {10.1016/S0140-6736(15)60451-2},
      url          = {https://juser.fz-juelich.de/record/188473},
}