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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},
}