Bilateral periventricular nodular heterotopia with new transgenic (exon11,V528M) of Filamin-1.

Accession number;03A0568607
Title;Bilateral periventricular nodular heterotopia with new transgenic (exon11,V528M) of Filamin-1.
Author; TAKAHASHI HITOSHI (Niigatadai Noken Byorigakubun'ya) KAKITA AKEMI (Niigatadai Noken Byorigakubun'ya) HAYASHI SHINTARO (Niigatadai Noken Byorigakubun'ya) MORO F (Pisadai Shonishinkeiseishinken) GUERRINI R (Rondondai Shonihokenken) OZAWA TSUNENORI (Niigatachuobyoin Nogeka) ONO AKITSUGU (Niigatachuobyoin Nogeka) KAMEYAMA SHIGEKI (Kokuryonishiniigatachuobyoin Tenkanse) WALSH C A (Habadodai Idengaku)
Journal Title;Annual Report of the Research on Nervous and Mental Disorders 2002
Journal Code:N20031207
ISSN:
VOL.;NO.;PAGE.12(2003)
Figure&Table&Reference;REF.1
Pub. Country;Japan
Language;Japanese
Abstract;Bilateral periventricular nodular heterotopia ( BPNH ) is migration disorder which makes ectopic gray matter node of ependyma lower layer to be features, and it is clinically accompanied by intractable epileptogenic. One example in pathologic autopsy of BPNH was experienced, and the histopathology view was reported. It was clarified that this example was accompanied by the new transgenic of Filamin-1, and there were meanwhile pathohistologically extensive glomerulus state vascular malformation and organization construction abnormality of cerebral cortex.