An epigenetic cause of seizures and brain calcification: Pseudohypoparathyroidism

The Lancet

Volumn 385, Issue 9979, 2015, Pages 1802-

  Ritter, Christian ^a   Göbel, Carl H ^a   Liebig, Thomas ^a   Kaminksy, Elke ^b   Fink, Gereon R ^a,c   Lehmann, Helmar C ^a  

^a UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^c FORSCHUNGSZENTRUM JÜLICH   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

PARATHYROID HORMONE; GNAS PROTEIN, HUMAN; STIMULATORY GUANINE NUCLEOTIDE BINDING PROTEIN;

ADULT; BASAL GANGLION; BRAIN CALCIFICATION; CALCIUM BLOOD LEVEL; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; ELECTROENCEPHALOGRAPHY; ENURESIS; FRONTAL LOBE; HUMAN; HYPERPHOSPHATEMIA; HYPOCALCEMIA; MALE; NOTE; PARATHYROID HORMONE BLOOD LEVEL; PRIORITY JOURNAL; PSEUDOHYPOPARATHYROIDISM; SEIZURE; SHORT STATURE; TONIC CLONIC SEIZURE; YOUNG ADULT; BRAIN DISEASES; CALCINOSIS; COMPLICATION; DNA METHYLATION; GENETIC EPIGENESIS; GENETICS; GENOME IMPRINTING; SEIZURES;

BRAIN DISEASES; CALCINOSIS; DNA METHYLATION; EPIGENESIS, GENETIC; GENOMIC IMPRINTING; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HUMANS; MALE; PSEUDOHYPOPARATHYROIDISM; SEIZURES; YOUNG ADULT;

EID: 84929658336     PISSN: 01406736     EISSN: 1474547X     Source Type: Journal    
DOI: 10.1016/S0140-6736(15)60451-2     Document Type: Article

References (4)

1. G Mantovani Clinical review: Pseudohypoparathyroidism: diagnosis and treatment J Clin Endocrinol Metab 96 2011 3020 3030
2. B Izzi, C Van Geet, K Freson Recent advances in GNAS epigenetic research of pseudohypoparathyroidism Curr Mol Med 12 2012 566 573
3. S Chillambhi, S Turan, DY Hwang, HC Chen, H Juppner, M Bastepe Deletion of the noncoding GNAS antisense transcript causes pseudohypoparathyroidism type Ib and biparental defects of GNAS methylation in cis J Clin Endocrinol Metab 95 2010 3993 4002
4. MA Levine An update on the clinical and molecular characteristics of pseudohypoparathyroidism Curr Opin Endocrinol Diabetes Obes 19 2012 443 451