What does PVNH stand for?

What does PVNH stand for?

Periventricular nodular heterotopia (PVNH), also known as subependymal grey matter heterotopia, is a brain malformation of cortical development. PVNH is characterized by an abnormal clumping of grey matter (nerve cells) around the deep fluid chambers inside the brain called the ventricles.

What causes PVNH?

The genetic forms of PVNH are caused by mutation or deletion of one of the following genes: FLNA, ARFGEF2, ERMARD and NEDD4L. In recent years new genes have been identified, however they may still need to be validated as a definite cause so we may not always list them until official sources do.

Is periventricular heterotopia fatal?

It is characterized by the presence of clumps of neurons near the brain’s ventricles. Most people with this disorder are female, as it can be lethal in males.

How common is heterotopia?

Frequency. Periventricular heterotopia is a rare condition. Its incidence is unknown.

How common is periventricular heterotopia?

Periventricular heterotopia is a rare condition. Its incidence is unknown.

What causes heterotopia?

In most cases, periventricular heterotopia is caused by mutations in the FLNA gene. This gene provides instructions for producing the protein filamin A, which helps build the network of protein filaments (cytoskeleton ) that gives structure to cells and allows them to change shape and move.

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