Broad phenotypic spectrum of FLNA-associated disorders resulting in brain malformation, epilepsy, mental retardation and stroke
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 · Aktuelle Neurologie · 2007 · Heft 09
Bibliografische Angaben
Zusammenfassung
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 also with ischemic cerebral lesions due to a profound vasculo-/coagulopathy. Furthermore, gain of function mutations of FLNA result in distinct skeletal phenotypes without any obvious neurological defic…
