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| 001 | 188473 | ||
| 005 | 20210129215213.0 | ||
| 024 | 7 | _ | |a 10.1016/S0140-6736(15)60451-2 |2 doi |
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| 100 | 1 | _ | |a Ritter, Christian |0 P:(DE-Juel1)156467 |b 0 |e Corresponding Author |
| 245 | _ | _ | |a An epigenetic cause of seizures and brain calcification: pseudohypoparathyroidism |
| 260 | _ | _ | |a London |c 2015 |b Lancet Publ. Group |
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| 520 | _ | _ | |a 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. |
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| 700 | 1 | _ | |a Fink, Gereon Rudolf |0 P:(DE-Juel1)131720 |b 4 |
| 700 | 1 | _ | |a Lehmann, H. C. |0 Extern |b 5 |
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