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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| Hauptverfasser: | , , , , , , , , , , , , , , , , , , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
15 October 2015
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| In: |
Orphanet journal of rare diseases
Year: 2015, Jahrgang: 10, Pages: 1-11 |
| ISSN: | 1750-1172 |
| DOI: | 10.1186/s13023-015-0331-9 |
| Online-Zugang: | 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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| Verfasserangaben: | 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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47 patients with FLNA associated periventricular nodular heterotopia
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