{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T13:40:17Z","timestamp":1790775617354,"version":"4.1.0"},"reference-count":21,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2018,12,13]],"date-time":"2018-12-13T00:00:00Z","timestamp":1544659200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2018,12,13]],"date-time":"2018-12-13T00:00:00Z","timestamp":1544659200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Eur J Pediatr"],"published-print":{"date-parts":[[2019,2,12]]},"DOI":"10.1007\/s00431-018-3301-0","type":"journal-article","created":{"date-parts":[[2018,12,13]],"date-time":"2018-12-13T20:20:06Z","timestamp":1544732406000},"page":"121-129","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":64,"title":["A review of filamin A mutations and associated interstitial lung disease"],"prefix":"10.1007","volume":"178","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1448-1151","authenticated-orcid":false,"given":"Erina","family":"Sasaki","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela T.","family":"Byrne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ethna","family":"Phelan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Desmond W.","family":"Cox","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William","family":"Reardon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2018,12,13]]},"reference":[{"key":"3301_CR1","doi-asserted-by":"publisher","first-page":"301","DOI":"10.1016\/j.gde.2005.04.001","volume":"15","author":"SP Robertson","year":"2005","unstructured":"Robertson SP (2005) Filamin A: phenotypic diversity. Curr Opin Genet Dev 15:301\u2013307. https:\/\/doi.org\/10.1016\/j.gde.2005.04.001","journal-title":"Curr Opin Genet Dev"},{"key":"3301_CR2","doi-asserted-by":"publisher","first-page":"1315","DOI":"10.1016\/S0896-6273(00)80651-0","volume":"21","author":"JW Fox","year":"1998","unstructured":"Fox JW, Lamperti ED, Ek\u015fio\u011flu YZ, Hong SE, Feng Y, Graham DA, Scheffer IE, Dobyns WB, Hirsch BA, Radtke RA, Berkovic SF, Huttenlocher PR, Walsh CA (1998) Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron 21:1315\u20131325","journal-title":"Neuron"},{"key":"3301_CR3","doi-asserted-by":"publisher","first-page":"1775","DOI":"10.1093\/hmg\/10.17.1775","volume":"10","author":"VL Sheen","year":"2001","unstructured":"Sheen VL, Dixon PH, Fox JW, Hong SE, Kinton L, Sisodiya SM, Duncan JS, Dubeau F, Scheffer IE, Schachter SC, Wilner A, Henchy R, Crino P, Kamuro K, DiMario F, Berg M, Kuzniecky R, Cole AJ, Bromfield E, Biber M, Schomer D, Wheless J, Silver K, Mochida GH, Berkovic SF, Andermann F, Andermann E, Dobyns WB, Wood NW, Walsh CA (2001) Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. Hum Mol Genet 10:1775\u20131783","journal-title":"Hum Mol Genet"},{"key":"3301_CR4","doi-asserted-by":"publisher","first-page":"541","DOI":"10.1136\/jmg.2005.038505","volume":"43","author":"U Hehr","year":"2006","unstructured":"Hehr U, Hehr A, Uyanik G, Phelan E, Winkler J, Reardon W (2006) A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome. J Med Genet 43:541\u2013544. https:\/\/doi.org\/10.1136\/jmg.2005.038505","journal-title":"J Med Genet"},{"key":"3301_CR5","doi-asserted-by":"publisher","first-page":"487","DOI":"10.1038\/ng1119","volume":"33","author":"SP Robertson","year":"2003","unstructured":"Robertson SP, Twigg SR, Sutherland-Smith AJ, Biancalana V, Gorlin RJ, Horn D, Kenwrick SJ, Kim CA, Morava E, Newbury-Ecob R, Orstavik KH, Quarrell OW, Schwartz CE, Shears DJ, Suri M, Kendrick-Jones J, Wilkie AO (2003) Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet 33:487\u2013491. https:\/\/doi.org\/10.1038\/ng1119","journal-title":"Nat Genet"},{"key":"3301_CR6","doi-asserted-by":"publisher","first-page":"731","DOI":"10.1086\/383094","volume":"74","author":"M Zenker","year":"2004","unstructured":"Zenker M, Rauch A, Winterpacht A, Tagariello A, Kraus C, Rupprecht T, Sticht H, Reis A (2004) A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts. Am J Hum Genet 74:731\u2013737. https:\/\/doi.org\/10.1086\/383094","journal-title":"Am J Hum Genet"},{"key":"3301_CR7","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1161\/CIRCULATIONAHA.106.622621","volume":"115","author":"F Kyndt","year":"2007","unstructured":"Kyndt F, Gueffet JP, Probst V, Jaafar P, Legendre A, Le Bouffant F, Toquet C, Roy E, McGregor L, Lynch SA, Newbury-Ecob R, Tran V, Young I, Trochu JN, Le M, Schott JJ (2007) Mutations in the Gene Encoding Filamin A as a Cause for Familial Cardiac Valvular Dystrophy. Circulation 115:40\u201349. https:\/\/doi.org\/10.1161\/CIRCULATIONAHA.106.622621","journal-title":"Circulation"},{"key":"3301_CR8","doi-asserted-by":"publisher","first-page":"751","DOI":"10.1086\/513321","volume":"80","author":"A Gargiulo","year":"2007","unstructured":"Gargiulo A, Auricchio R, Barone MV, Cotugno G, Reardon W, Milla PJ, Ballabio A, Ciccodicola A, Auricchio A (2007) Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement. Am J Hum Genet 80:751\u2013758. https:\/\/doi.org\/10.1086\/513321","journal-title":"Am J Hum Genet"},{"key":"3301_CR9","doi-asserted-by":"publisher","first-page":"276","DOI":"10.1055\/s-2007-973575","volume":"5","author":"A Puche","year":"1998","unstructured":"Puche A, Rodriguez T, Domingo R, Casas C, Vicente T, Martinez-Lage JF (1998) X-linked Subcortical laminar heterotopia and lissencephaly: a new family. Neuropediatrics 5:276\u2013278. https:\/\/doi.org\/10.1055\/s-2007-973575","journal-title":"Neuropediatrics"},{"key":"3301_CR10","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1016\/j.ejmg.2010.12.009","volume":"54","author":"MCY De Wit","year":"2010","unstructured":"De Wit MCY, Tiddens HAWM, de Coo IFM, Mancini GMS (2010) Lung disease in FLNA mutation: confirmatory report. Eur J Med Genet 54:299\u2013300. https:\/\/doi.org\/10.1016\/j.ejmg.2010.12.009","journal-title":"Eur J Med Genet"},{"key":"3301_CR11","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1016\/j.ejmg.2010.09.010","volume":"54","author":"A Masurel-Paulet","year":"2011","unstructured":"Masurel-Paulet A, Haan E, Thompson EM, Goizet C, Thauvin-Robinet C, Tai A (2011) Lung disease associated with periventricular nodular heterotopia and an FLNA mutation. Eur J Med Genet 54:25\u201328. https:\/\/doi.org\/10.1016\/j.ejmg.2010.09.010","journal-title":"Eur J Med Genet"},{"key":"3301_CR12","doi-asserted-by":"publisher","first-page":"171","DOI":"10.4187\/respcare.02847","volume":"59","author":"A Lord","year":"2014","unstructured":"Lord A, Shapiro AJ, Saint-Martin C, Claveau M, Melancon S, Wintermark P (2014) Filamin a mutation may be associated with diffuse lung diease mimicking bronchopulmonary dysplasia in premature newborns. Respir Care 59:171\u2013177. https:\/\/doi.org\/10.4187\/respcare.02847","journal-title":"Respir Care"},{"key":"3301_CR13","first-page":"A5487","volume":"191","author":"S Bickel","year":"2015","unstructured":"Bickel S, Siefman M, Eid NS (2015) Interstitial lung disease, bcronchiectasis, and asthma in a patient with filamin A, alpha (FLNA) mutation. Am J Respir Crit Care Med 191:A5487","journal-title":"Am J Respir Crit Care Med"},{"key":"3301_CR14","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1186\/s13256-016-0871-1","volume":"10","author":"S Eltahir","year":"2016","unstructured":"Eltahir S, Ahmad KS, Al-Balawi MM, Bukhamsien H, Al-Mobaireek K, Alotaibi W, Al-Shamrani A (2016) Lung disease associated with filamin A gene mutation: a case report. J Med Case Rep 10:97. https:\/\/doi.org\/10.1186\/s13256-016-0871-1","journal-title":"J Med Case Rep"},{"key":"3301_CR15","doi-asserted-by":"publisher","first-page":"1306","DOI":"10.1002\/ppul.23695","volume":"52","author":"SC Shelmerdine","year":"2017","unstructured":"Shelmerdine SC, Semple T, Wallis C, Aurora P, Moledina S, Ashworth MT, Owens CM (2017) Filamin A (FLNA) mutation\u2014a newcomer to the childhood interstitial lung disease (ChILD) classification. Pediatr Pulmonol 52:1306\u20131315. https:\/\/doi.org\/10.1002\/ppul.23695","journal-title":"Pediatr Pulmonol"},{"key":"3301_CR16","doi-asserted-by":"publisher","first-page":"118","DOI":"10.1016\/j.jpeds.2017.03.045","volume":"186","author":"LC Burrage","year":"2017","unstructured":"Burrage LC, Guillerman RP, Das S, Singh S, Schady DA, Morris SA, Walkiewicz M, Schecter MG, Heinle JS, Lotze TE, Lalani SR, Mallory GB (2017) Lung transplantation for FLNA-associated progressive lung disease. J Pediatr 186:118\u2013123. https:\/\/doi.org\/10.1016\/j.jpeds.2017.03.045","journal-title":"J Pediatr"},{"key":"3301_CR17","doi-asserted-by":"publisher","first-page":"562","DOI":"10.1056\/NEJMcpc1613465","volume":"376","author":"TB Kinane","year":"2017","unstructured":"Kinane TB, Lin AE, Lahoud-Rahme M, Westra SJ, Mark EJ (2017) Case 4-2017: A 2 month-old girl with growth retardation and respiratory failure. N Engl J Med 376:562\u2013574. https:\/\/doi.org\/10.1056\/nejmcpc1613465","journal-title":"N Engl J Med"},{"issue":"3","key":"3301_CR18","doi-asserted-by":"publisher","first-page":"376","DOI":"10.1164\/rccm.201305-0923ST","volume":"188","author":"G Kurland","year":"2013","unstructured":"Kurland G, Deterding RR, Hagood JS, Young LR, Brody AS, Castile RG, Dell S, Fan LL, Hamvas A, Hilman BC, Langston C, Nogee LM, Redding GJ (2013) An official American Thoracic Society clinical practice guideline: classification, evaluation, and management of childhood interstitial lung disease in infancy. Am J Respir Crit Care Med 188(3):376\u2013394. https:\/\/doi.org\/10.1164\/rccm.201305-0923ST","journal-title":"Am J Respir Crit Care Med"},{"key":"3301_CR19","doi-asserted-by":"publisher","first-page":"1078","DOI":"10.1136\/thoraxjnl-2015-207349","volume":"70","author":"A Bush","year":"2015","unstructured":"Bush A, Cunningham S, de Blic J, Barbato A, Clement A, Epaud R, Hengst M, Kiper N, Nicholson AG, Wetzke M, Snijders D, Schwerk N, Griese M (2015) European protocols for the diagnosis and initial treatment of interstitial lung disease in children. Thorax 70:1078\u20131084. https:\/\/doi.org\/10.1136\/thoraxjnl-2015-207349","journal-title":"Thorax"},{"key":"3301_CR20","doi-asserted-by":"publisher","first-page":"1000","DOI":"10.1002\/ppul.23124","volume":"10","author":"R O'Reilly","year":"2015","unstructured":"O'Reilly R, Kilner D, Ashworth M, Aurora P (2015) Diffuse lung disease in infants less than 1 year of age: histopathological diagnoses and clinical outcome. Pediatr Pulmonol 10:1000\u20131008. https:\/\/doi.org\/10.1002\/ppul.23124","journal-title":"Pediatr Pulmonol"},{"key":"3301_CR21","doi-asserted-by":"publisher","first-page":"2845","DOI":"10.1093\/hmg\/11.23.2845","volume":"23","author":"VL Sheen","year":"2002","unstructured":"Sheen VL, Feng Y, Graham D, Takafuta T, shapiro SS, Walsh CA (2002) Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact. Hum Mol Genet 23:2845\u20132854. https:\/\/doi.org\/10.1093\/hmg\/11.23.2845","journal-title":"Hum Mol Genet"}],"container-title":["European Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00431-018-3301-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-018-3301-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-018-3301-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,9]],"date-time":"2025-04-09T05:15:10Z","timestamp":1744175710000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00431-018-3301-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,12,13]]},"references-count":21,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2019,2,12]]}},"alternative-id":["3301"],"URL":"https:\/\/doi.org\/10.1007\/s00431-018-3301-0","relation":{},"ISSN":["0340-6199","1432-1076"],"issn-type":[{"value":"0340-6199","type":"print"},{"value":"1432-1076","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,12,13]]},"assertion":[{"value":"25 September 2018","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 November 2018","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 November 2018","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 December 2018","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Patient details are published with consent.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"The authors declare that they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}