47 patients with FLNA associated periventricular nodular heterotopia
Heterozygous loss of function mutations within the Filamin A gene in Xq28 are the most frequent cause of bilateral neuronal periventricular nodular heterotopia (PVNH). Most affected females are reported to initially present with difficult to treat seizures at variable age of onset. Psychomotor devel...
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| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
15 October 2015
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| In: |
Orphanet journal of rare diseases
Year: 2015, Volume: 10, Pages: 1-11 |
| ISSN: | 1750-1172 |
| DOI: | 10.1186/s13023-015-0331-9 |
| Online Access: | Resolving-System, lizenzpflichtig, Volltext: https://doi.org/10.1186/s13023-015-0331-9 Verlag, lizenzpflichtig, Volltext: https://ojrd.biomedcentral.com/articles/10.1186/s13023-015-0331-9 
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| Author Notes: | Max Lange, Burkhard Kasper, Axel Bohring, Frank Rutsch, Gerhard Kluger, Sabine Hoffjan, Stephanie Spranger, Anne Behnecke, Andreas Ferbert, Andreas Hahn, Barbara Oehl-Jaschkowitz, Luitgard Graul-Neumann, Katharina Diepold, Isolde Schreyer, Matthias K. Bernhard, Franziska Mueller, Ulrike Siebers-Renelt, Ana Beleza-Meireles, Goekhan Uyanik, Sandra Janssens, Eugen Boltshauser, Juergen Winkler, Gerhard Schuierer and Ute Hehr |
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| 520 | |a Heterozygous loss of function mutations within the Filamin A gene in Xq28 are the most frequent cause of bilateral neuronal periventricular nodular heterotopia (PVNH). Most affected females are reported to initially present with difficult to treat seizures at variable age of onset. Psychomotor development and cognition may be normal or mildly to moderately impaired. Distinct associated extracerebral findings have been observed and may help to establish the diagnosis including patent ductus arteriosus Botalli, progressive dystrophic cardiac valve disease and aortic dissection, chronic obstructive lung disease or chronic constipation. Genotype-phenotype correlations could not yet be established. | ||
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