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Resources for Families

We serve two communities: parents whose children have been diagnosed with the mutation and the medical community caring for our children and researching the mutation. Together, we are working towards a treatment and a cure.

Read below for more details on PPP3CA and what this means for you and your family. Our New Families Welcome Packet can also be found below.

Overview

PPP3CA (protein phosphatase 3 catalytic subunit alpha) is a protein coding gene. This means the PPP3CA gene provides instructions to the body to create a certain protein, calcineurin. This protein is involved in the synapse regions between nerve cells. It plays a role in “recycling” the vesicles which carry the neurotransmitters. It is also important in brain development, connectivity and regulating electrical activity.

The diagnosis of a PPP3CA mutation means that there is a spelling mistake in the section of the DNA for creating, calcineurin, the protein the PPP3CA gene codes for. Depending on where the spelling mistake is in the PPP3CA gene, the result is either a protein that doesn't work (this is called "loss of function") or a protein that doesn't have an "off switch" so it is always running even when its product is not needed (this is called "gain of function"). All individuals have developmental delays and most have abnormal electrical activity in the brain. The other symptoms are grouped depending on where their mutation is located.

Every individual has about sixty genetic changes or spelling differences in their DNA that do not come from either parent. This is called a de novo mutation. In most cases this is totally fine, but if the genetic change happens in the part of the DNA that codes for the PPP3CA protein, the spelling error almost always shows up as developmental delays and abnormal electrical activity in the brain.

PPP3CA is one of the mutations nested under the category of developmental and epileptic encephalopathy.

Doctors, researchers and scientists are learning more about PPP3CA every day.  The more patients who are identified, the more we can learn.

New Families Packet

Welcome to the PPP3CA community! This packet was put together to help answer any questions you and your family may have.

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