{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T07:27:42Z","timestamp":1761895662638},"reference-count":28,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,5,1]],"date-time":"2013-05-01T00:00:00Z","timestamp":1367366400000},"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":[[2013,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label \/><jats:p>Periventricular nodular heterotopia (PNH) is a developmental disorder of the central nervous system, characterized by heterotopic nodules of gray matter resulting from disturbed neuronal migration. The most common form of bilateral PNH is X\u2010linked dominant inherited, caused by mutations in the Filamin A gene (<jats:italic>FLNA<\/jats:italic>) and associated with a wide variety of other clinical findings including congenital heart disease. The typical patient with <jats:italic>FLNA<\/jats:italic>\u2010associated PNH is female and presents with difficult to treat seizures. In contrast, hemizygous <jats:italic>FLNA<\/jats:italic> loss of function mutations in males are reported to be perinatally lethal. In X\u2010linked dominant traits like <jats:italic>FLNA<\/jats:italic>\u2010associated PNH the causal mutation is commonly inherited from the mother. Here, we present an exceptional family with paternal transmission of classic bilateral <jats:italic>FLNA\u2010<\/jats:italic>associated PNH from a mildly affected father with somatic and germline mosaicism for a c.5686G&gt;A <jats:italic>FLNA<\/jats:italic> splice mutation to both daughters with strikingly variable clinical manifestation and PNH extent in cerebral MR imaging. Our observations emphasize the importance to consider in genetic counseling and risk assessment the rare genetic constellation of paternal transmission for families with X\u2010linked dominant inherited <jats:italic>FLNA<\/jats:italic>\u2010associated PNH. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35917","type":"journal-article","created":{"date-parts":[[2013,5,2]],"date-time":"2013-05-02T05:11:19Z","timestamp":1367471479000},"page":"1323-1328","source":"Crossref","is-referenced-by-count":18,"title":["Paternal inheritance of classic X\u2010linked bilateral periventricular nodular heterotopia"],"prefix":"10.1002","volume":"161","author":[{"given":"Burkhard S.","family":"Kasper","sequence":"first","affiliation":[{"name":"Department of Neurology Epilepsy Center, Erlangen University Erlangen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katrin","family":"Kurzbuch","sequence":"additional","affiliation":[{"name":"Department 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Erlangen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ute","family":"Hehr","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Center for Human Genetics, University of Regensburg Regensburg 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