CareLit · DOI-Nachweis · Aktuelle Neurologie
Broad phenotypic spectrum of FLNA-associated disorders resulting in brain malformation, epilepsy, mental retardation and stroke
DOI 10.1055/s-2007-987790
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Autor:innenG Uyanik, A Hehr, G Schuierer, A Bohring, S Spranger, L Neumann, MG Shamdeen, B Kasper, H Stefan, W Reardon, U Bogdahn, U Hehr, J Winkler
ZeitschriftAktuelle Neurologie
Ausgabe09/2007
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
Aims: Mutations of the X-linked Filamin A gene (FLNA) on Xq28 are detected in patients with periventricular nodular heterotopia (PVNH). Due to its X-linked character the most common form of PVNH affects mostly females, while mutations of the FLNA gene in hemizygous males are mostly lethal. Clinically, PVNH is characterized by focal and/or generalized seizures, mild to profound mental retardation and in some cases al…
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Zitierempfehlung
G Uyanik, A Hehr, G Schuierer, A Bohring, S Spranger, L Neumann, MG Shamdeen, B Kasper, H Stefan, W Reardon, U Bogdahn, U Hehr, J Winkler (2007) Broad phenotypic spectrum of FLNA-associated disorders resulting in brain malformation, epilepsy, mental retardation and stroke. Aktuelle Neurologie (09). https://doi.org/10.1055/s-2007-987790
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