How common is PVNH?

The incidence of PVNH is unknown because some people may not show symptoms. It is estimated that about 50% of occurences are genetically linked to the X-chromosome however, as genetic diagnoses evolve, this can vary. The other 50% are thought to be spontaneous mutations.

What is PVNH?

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.

Can heterotopia cause seizures?

Individuals with periventricular heterotopia in whom ARFGEF2 gene mutations have been identified have a severe form of the disorder, including microcephaly, severe developmental delay, and seizures beginning in infancy.

What is heterotopic gray matter?

Grey matter heterotopia is a malformation of cortical development, where cortical cells (grey matter) are present in inappropriate locations in the brain, due to interruption in their migration to their correct location in the cerebral cortex.

Does GREY matter Heterotopia get worse?

In general, gray matter heterotopia is fixed in both its occurrence and symptoms; that is, once symptoms occur, it does not tend to progress.

Does Gray Matter heterotopia cause seizures?

Developmental, cognitive and motor impairments can occur, and are more severe in those with bilateral or extensive heterotopia or other brain abnormalities. Seizures are common, seen in 80-90% of cases.

Are partial seizures epilepsy?

A simple partial seizure is a type of seizure associated with epilepsy. It may also be referred to as a focal seizure. Epilepsy is a condition that causes multiple seizures, and the seizures can be of any type. A simple partial seizure will affect only one area of your brain.

Can a person with PVNH have epilepsy?

Most individuals with PVNH are female and have epilepsy as their sole comorbid condition. PVNH, while less common in males, is thought to affect males more severely, and may present with epilepsy, intellectual disability, and other congenital anomalies. What do seizures in PVNH look like?

What is periventricular nodular heterotopia ( PVNH )?

What is periventricular nodular heterotopia (PVNH)? 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.

Can a person with periventricular nodular heterotopia have seizures?

Periventricular nodular heterotopias are among the most common types of abnormal brain formation encountered in clinical practice. People with this abnormality frequently present with focal epilepsy that can be a drug-resistant (fail to respond to seizure medication). A variable degree of intellectual disability can be seen.

Is there a rarer form of bilateral PVNH?

There is also a rarer form of bilateral PVNH that is caused by mutations of the ARFGEF2 gene. This gene is inherited in an autosomal recessive manner, in which the affected person has two copies of the abnormal gene, inheriting one from each parent, but parents are not affected. How is PVNH diagnosed?