{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T02:53:17Z","timestamp":1780541597630,"version":"3.54.1"},"reference-count":21,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2012,6,27]],"date-time":"2012-06-27T00:00:00Z","timestamp":1340755200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2012,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Periventricular heterotopia (PH) is a disorder of neuronal migration during fetal development that is characterized by morphologically normal neurons being located in an anatomically abnormal position in the mature brain. PH is usually diagnosed in patients presenting with a seizure disorder, when neuroimaging demonstrates the ectopically placed nodules of neurons. PH is a genetically and phenotypically heterogeneous disorder. The most commonly identified genetic cause is the X\u2010linked dominant inheritance of mutations in the <jats:italic>Filamin A<\/jats:italic> (<jats:italic>FLNA<\/jats:italic>) gene. Multiple lines of evidence support the contribution of genetic factors in dyslexia. As dyslexia does not show a single\u2010gene pattern of inheritance, it is classified as a complex genetic disorder. We have recently identified a specific reading fluency deficit in a variable group of patients with PH, in the context of normal intelligence. Here, we present a study of a mother\u2013daughter pair who share bilateral widespread gray matter heterotopia caused by a novel mutation in <jats:italic>FLNA<\/jats:italic> and the same pattern of X\u2010chromosome inactivation but who exhibit divergent reading and cognitive profiles. This novel observation highlights the uncertainty of using heterotopia anatomy in clinical practice to predict behavioral outcome. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35455","type":"journal-article","created":{"date-parts":[[2012,6,27]],"date-time":"2012-06-27T20:20:31Z","timestamp":1340828431000},"page":"1897-1901","source":"Crossref","is-referenced-by-count":11,"title":["<i>Filamin A<\/i> mutation associated with normal reading skills and dyslexia in a family with periventricular heterotopia"],"prefix":"10.1002","volume":"158A","author":[{"given":"Eyal","family":"Reinstein","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernard S.","family":"Chang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen P.","family":"Robertson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David L.","family":"Rimoin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tami","family":"Katzir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,6,27]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10519-008-9215-2"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000286365.41070.54"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000152874.57180.AF"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1207\/S15326942DN2002_3"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-0965(02)00181-9"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01067536"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11881-006-0003-5"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1177\/0022219407311325"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11881-003-0001-9"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073808315415"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cortex.2009.07.008"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2005.04.001"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1990.03450080084036"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10519-011-9444-7"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1080\/17470210701508830"},{"key":"e_1_2_5_17_1","volume-title":"Test of word reading efficiency","author":"Torgesen JK","year":"1999"},{"key":"e_1_2_5_18_1","volume-title":"Comprehensive test of phonological processing","author":"Wagner R","year":"1999"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2009.05.009"},{"key":"e_1_2_5_20_1","volume-title":"Gray oral reading tests","author":"Wiederholt JL","year":"2001"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320540207"},{"key":"e_1_2_5_22_1","volume-title":"Woodcock reading mastery test\u2010revised","author":"Woodcock R","year":"1997"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.35455","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35455","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,21]],"date-time":"2023-11-21T10:44:25Z","timestamp":1700563465000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35455"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,6,27]]},"references-count":21,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2012,8]]}},"alternative-id":["10.1002\/ajmg.a.35455"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35455","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,6,27]]}}}