Periventricular heterotopia: new insights into Ehlers-Danlos syndrome.

ABSTRACT: Nature often employs similar mechanisms to complete similar tasks, thus the evolution of homologous proteins across various organ systems to perform similar but slightly different functions. In this respect, disorders attributed to specific genetic mutations, while initially thought to be restricted in function and purpose, may provide broad insight into general cellular and molecular mechanisms of development and maintenance. One such example can be seen in the brain malformation, periventricular heterotopia (PH), which is characterized by very specific nodules of neurons that line the lateral ventricles beneath the cerebral cortex. PH is seen as a disorder of neuronal migration and can be caused by mutations in filamin A (FLNA), which encodes an actin-binding protein that regulates the c

SUBMITTER: Sheen VL 

PROVIDER: S-EPMC1288408 | biostudies-literature | 2005 Nov

REPOSITORIES: biostudies-literature