{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T13:18:19Z","timestamp":1791206299968,"version":"4.1.0"},"reference-count":27,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2014,3,28]],"date-time":"2014-03-28T00:00:00Z","timestamp":1395964800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2015,1]]},"abstract":"<jats:p>Incontinentia pigmenti is an X-linked dominant disorder resulting from a mutation of IKBKG. This disorder has a classic dermatologic presentation, but neurologic involvement, with seizures and cortical infarction, can arise shortly after birth. There are no specific therapies available for the manifestations of incontinentia pigmenti. Here, we describe the clinical, electrographic, and neuroradiologic effect of systemic glucocorticoid therapy in a neonate with incontinentia pigmenti manifesting an epileptic encephalopathy. Treatment with dexamethasone led to a dramatic reduction in seizure activity and improvement in bullous lesions. A novel mutation in IKBKG is also reported.<\/jats:p>","DOI":"10.1177\/0883073813517509","type":"journal-article","created":{"date-parts":[[2014,3,28]],"date-time":"2014-03-28T21:44:35Z","timestamp":1396043075000},"page":"100-106","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":23,"title":["High-Dose Glucocorticoid Therapy in the Management of Seizures in Neonatal Incontinentia Pigmenti"],"prefix":"10.1177","volume":"30","author":[{"given":"David S.","family":"Wolf","sequence":"first","affiliation":[{"name":"Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA"},{"name":"Division of Pediatric Neurology, Emory University\/Children\u2019s Healthcare of Atlanta, Atlanta, GA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W. Christopher","family":"Golden","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Eudowood Neonatal Pulmonary Division, Johns Hopkins University School of Medicine, Baltimore, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Hoover-Fong","sequence":"additional","affiliation":[{"name":"McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolyn","family":"Applegate","sequence":"additional","affiliation":[{"name":"McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernard A.","family":"Cohen","sequence":"additional","affiliation":[{"name":"Division of Pediatric Dermatology, Johns Hopkins University School of Medicine, Baltimore, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily L.","family":"Germain-Lee","sequence":"additional","affiliation":[{"name":"McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA"},{"name":"Kennedy Krieger Institute, Baltimore, MD, USA"},{"name":"Division of Pediatric Endocrinology, Johns Hopkins University School of Medicine, Baltimore, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morton F.","family":"Goldberg","sequence":"additional","affiliation":[{"name":"The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas O.","family":"Crawford","sequence":"additional","affiliation":[{"name":"Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Estelle B.","family":"Gauda","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Eudowood Neonatal Pulmonary Division, Johns Hopkins University School of Medicine, Baltimore, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2014,3,28]]},"reference":[{"key":"bibr1-0883073813517509","first-page":"21","author":"Fusco F","year":"2012","journal-title":"Eur J Hum Genet"},{"key":"bibr2-0883073813517509","unstructured":"Scheuerle A, Ursini MV. Incontinentia pigmenti. In: Pagon RA, Bird TD, Dolan CR, eds. GeneReviews\u2122 [internet]. Seattle, WA: University of Washington; 1999 Jun 8 [Updated 2010 Oct 28]: Available from: http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1472\/."},{"key":"bibr3-0883073813517509","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.1.53"},{"key":"bibr4-0883073813517509","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.140.6.748"},{"key":"bibr5-0883073813517509","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.139.9.1163"},{"key":"bibr6-0883073813517509","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2012.04.007"},{"key":"bibr7-0883073813517509","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1995.02170180103019"},{"key":"bibr8-0883073813517509","doi-asserted-by":"publisher","DOI":"10.1038\/35013114"},{"key":"bibr9-0883073813517509","doi-asserted-by":"publisher","DOI":"10.1086\/324591"},{"key":"bibr10-0883073813517509","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2230.2009.03301.x"},{"key":"bibr11-0883073813517509","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.1994.tb00086.x"},{"key":"bibr12-0883073813517509","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2008.08.010"},{"key":"bibr13-0883073813517509","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e328357c984"},{"key":"bibr14-0883073813517509","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2008.03121.x"},{"key":"bibr15-0883073813517509","doi-asserted-by":"publisher","DOI":"10.1016\/j.siny.2003.08.003"},{"key":"bibr16-0883073813517509","first-page":"378","volume":"18","author":"Mesiano S","year":"1997","journal-title":"Endocr Rev"},{"key":"bibr17-0883073813517509","doi-asserted-by":"publisher","DOI":"10.1080\/01443610410001645389"},{"key":"bibr18-0883073813517509","doi-asserted-by":"publisher","DOI":"10.1177\/1099800411413460"},{"key":"bibr19-0883073813517509","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1210\/jcem-46-6-971","volume":"46","author":"Sippell WG","year":"1978","journal-title":"J Clin Endocrinol Metab"},{"key":"bibr20-0883073813517509","doi-asserted-by":"publisher","DOI":"10.1016\/j.bpobgyn.2007.05.001"},{"key":"bibr21-0883073813517509","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9378(99)70097-9"},{"key":"bibr22-0883073813517509","doi-asserted-by":"publisher","DOI":"10.1177\/0883073812453203"},{"key":"bibr23-0883073813517509","first-page":"21","volume":"137","author":"Finer NN","year":"1983","journal-title":"Am J Dis Child"},{"key":"bibr24-0883073813517509","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroscience.2011.01.050"},{"key":"bibr25-0883073813517509","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr556"},{"key":"bibr26-0883073813517509","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20739"},{"key":"bibr27-0883073813517509","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh192"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073813517509","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0883073813517509","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073813517509","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:36:35Z","timestamp":1777494995000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0883073813517509"}},"subtitle":["A Case Report"],"short-title":[],"issued":{"date-parts":[[2014,3,28]]},"references-count":27,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2015,1]]}},"alternative-id":["10.1177\/0883073813517509"],"URL":"https:\/\/doi.org\/10.1177\/0883073813517509","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,3,28]]}}}