Article
47 patients with FLNA associated periventricular nodular heterotopia.
Orphanet journal of rare diseases - 15 Oct 2015
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
Abstract excerpt
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. Psychomotor development and cognition may be normal or mildly to moderately impaired. Distinct associated extracerebral...
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