{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T02:46:18Z","timestamp":1791859578257,"version":"4.3.4"},"reference-count":15,"publisher":"American Academy of Pediatrics (AAP)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2005,2,1]]},"abstract":"<jats:p>We describe 2 sisters diagnosed initially with paroxysmal kinesigenic choreoathetosis, a condition characterized by brief episodes of spasms precipitated by sudden movement. However, subsequent testing showed hypocalcemia, hyperphosphatemia, and elevated parathyroid hormone levels consistent with pseudohypoparathyroidism type Ib. This diagnosis was confirmed by genetic testing, which identified a 3-kilobase deletion on chromosome 20q13.3. Our report describes the neurologic presentation, metabolic derangement, and underlying genetic mutation in a family. It also reinforces the importance of metabolic testing in the evaluation of pediatric patients with movement disorders.<\/jats:p>","DOI":"10.1542\/peds.2004-1878","type":"journal-article","created":{"date-parts":[[2005,1,4]],"date-time":"2005-01-04T01:13:32Z","timestamp":1104801212000},"page":"e242-e244","source":"Crossref","is-referenced-by-count":45,"title":["Molecular Diagnosis of Pseudohypoparathyroidism Type Ib in a Family With Presumed Paroxysmal Dyskinesia"],"prefix":"10.1542","volume":"115","author":[{"given":"Farid H.","family":"Mahmud","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology and Metabolism, Mayo Clinic, Rochester, Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agne\u0300s","family":"Linglart","sequence":"additional","affiliation":[{"name":"Endocrine and Pediatric Nephrology Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Murat","family":"Bastepe","sequence":"additional","affiliation":[{"name":"Endocrine and Pediatric Nephrology Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harald","family":"Ju\u0308ppner","sequence":"additional","affiliation":[{"name":"Endocrine and Pediatric Nephrology Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aida N.","family":"Lteif","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Metabolism, Mayo Clinic, Rochester, Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2005,2,1]]},"reference":[{"key":"2021120819194825400_R1","doi-asserted-by":"crossref","unstructured":"Bastepe M, Fro\u0308hlich LF, Hendy GN, et al. Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS. J Clin Invest.\u20082003;112:1255\u20131263","DOI":"10.1172\/JCI19159"},{"key":"2021120819194825400_R2","doi-asserted-by":"crossref","unstructured":"Levine MA. Pseudohypoparathyroidism. In: Bilzekian JP, Raiz LG, Rodan GA, eds. Principles of Bone Biology. New York, NY: Academic Press; 2002:1137\u20131163","DOI":"10.1016\/B978-012098652-1\/50166-9"},{"key":"2021120819194825400_R3","doi-asserted-by":"crossref","unstructured":"Neves SR, Ram PT, Iyengar R. G protein pathways. Science.\u20082002;296:1636\u20131639","DOI":"10.1126\/science.1071550"},{"key":"2021120819194825400_R4","doi-asserted-by":"crossref","unstructured":"Weinstein LS, Yu S, Warner DR, Liu J. Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting. Endocr Rev.\u20082001;22:675\u2013705","DOI":"10.1210\/edrv.22.5.0439"},{"key":"2021120819194825400_R5","doi-asserted-by":"crossref","unstructured":"Bastepe M, Pincus JE, Sugimoto T, et al. Positional dissociation between the genetic mutation responsible for pseudohypoparathyroidism type Ib and the associated methylation defect at exon A\/B: evidence for a long-range regulatory element within the imprinted GNAS1 locus. Hum Mol Genet.\u20082001;10:1231\u20131241","DOI":"10.1093\/hmg\/10.12.1231"},{"key":"2021120819194825400_R6","doi-asserted-by":"crossref","unstructured":"Bastepe M, Lane AH, Ju\u0308ppner H. Paternal uniparental isodisomy of chromosome 20q\u2014and the resulting changes in GNAS1 methylation\u2014as a plausible cause of pseudohypoparathyroidism. Am J Hum Genet.\u20082001;68:1283\u20131289","DOI":"10.1086\/320117"},{"key":"2021120819194825400_R7","doi-asserted-by":"crossref","unstructured":"Liu J, Erlichman B, Weinstein LS. The stimulatory G protein alpha-subunit Gs alpha is imprinted in human thyroid glands: implications for thyroid function in pseudohypoparathyroidism types Ia and Ib. J Clin Endocrinol Metab.\u20082003;88:4336\u20134341","DOI":"10.1210\/jc.2003-030393"},{"key":"2021120819194825400_R8","unstructured":"Ambrosio AF, Soares-da-Silva P, Carvalho CM, Carvalho AP. Mechanisms of action of carbamazepine and its derivatives, oxcarbazepine, BIA 2\u2013093, and BIA 2\u2013024. Neurochem Res.\u20082002;27:121\u2013130"},{"key":"2021120819194825400_R9","doi-asserted-by":"crossref","unstructured":"Bhatia KP. The paroxysmal dyskinesias. J Neurol.\u20081999;246:149\u2013155","DOI":"10.1007\/s004150050325"},{"key":"2021120819194825400_R10","doi-asserted-by":"crossref","unstructured":"Christiansen NJ, Hansen PF. Choreiform movements in hypoparathyroidism. 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