47 patients with FLNA associated periventricular nodular heterotopia

BACKGROUND: 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. Psych...

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Detalles Bibliográficos
Autores principales: Lange, Max, Kasper, Burkhard, Bohring, Axel, Rutsch, Frank, Kluger, Gerhard, Hoffjan, Sabine, Spranger, Stephanie, Behnecke, Anne, Ferbert, Andreas, Hahn, Andreas, Oehl-Jaschkowitz, Barbara, Graul-Neumann, Luitgard, Diepold, Katharina, Schreyer, Isolde, Bernhard, Matthias K., Mueller, Franziska, Siebers-Renelt, Ulrike, Beleza-Meireles, Ana, Uyanik, Goekhan, Janssens, Sandra, Boltshauser, Eugen, Winkler, Juergen, Schuierer, Gerhard, Hehr, Ute
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4608144/
https://www.ncbi.nlm.nih.gov/pubmed/26471271
http://dx.doi.org/10.1186/s13023-015-0331-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4608144/
https://www.ncbi.nlm.nih.gov/pubmed/26471271
http://dx.doi.org/10.1186/s13023-015-0331-9

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