The DEPDC5 gene helps put a brake on a cell growth pathway called mTOR, especially in the brain. This gene plays an important role in helping cells respond to nutrient signals and keep growth more controlled. When the DEPDC5 gene does not work properly, some nerve cells may become overly excitable, which can lead to focal seizures and, in some people, changes in brain development. Pathogenic variants in the DEPDC5 gene are a recognized cause of inherited focal epilepsy, although effects can vary a lot from one person to another.
What is a gene?
A gene is a stretch of DNA that holds instructions your cells use to make molecules or regulate activities in the body. Some genes carry the directions for producing proteins, the parts of cells that do much of the work. Other genes mainly control when certain activities happen, where they occur, and how active they are. Together, genes affect how the body develops and functions, and they can also influence how you respond to food, stress, or medications. To explore this topic in more detail, you can learn more in the LearnHub.
Overview
DEPDC5Gene function
What if the gene works
The DEPDC5 gene helps keep a key cell growth pathway under control, especially when nutrients are low. This supports balanced growth, energy use, and brain cell activity.
Risk
What if the gene does not work
When the DEPDC5 gene does not work properly, it is best known for causing focal epilepsy, often with varying age at onset and seizure severity. Some people also have changes in brain development, including focal cortical dysplasia.
Treatment
What does that mean for your treatment
For people with a pathogenic variant in the DEPDC5 gene, no treatment approach specific to DEPDC5 is currently established. Drug choices usually follow standard epilepsy care. Because the DEPDC5 gene affects a cell growth signal called mTOR, drugs that calm this pathway, including everolimus, are being studied for some epilepsies linked to DEPDC5.
Conditions associated with DEPDC5
Gene function
What if the gene works
In your cells, the DEPDC5 gene helps match growth to the nutrients available. Understanding how the DEPDC5 gene works makes it easier to see how cells stay balanced from day to day. It is part of a protein team that helps control mTORC1 (a main cell growth switch).
This gene helps cells read amino acid levels, which tells them how much building material is available. When supplies are low, its protein team helps keep the mTORC1 growth switch turned down.
By tuning mTORC1 (a main cell growth switch), the DEPDC5 gene helps cells grow only when conditions are suitable. This supports orderly protein production and routine cell maintenance.
When nutrients are limited, this gene helps cells shift away from growth and toward conserving resources. That supports steady energy use during everyday cell activity.
This gene also supports autophagy (the process cells use to recycle worn out parts) when nutrients are scarce. This lets cells reuse materials and keep their internal environment tidy.
What is a variant?
A genetic variant is a minor change in a gene’s DNA sequence. These changes are common and help explain normal differences among people, including appearance, metabolism, and the way the body reacts to environmental influences. Many variants do not produce any noticeable effect and are part of natural genetic variation. At times, though, a variant can change how a gene works more significantly and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Many DEPDC5 gene variants shorten the protein or stop it from being made, weakening the GATOR1 complex and leaving mTOR signaling more active than it should be. Some changes are milder and mainly reduce protein stability or partner binding, while more disruptive variants can cause near complete loss of function. This range helps explain the DEPDC5 gene variants effect, with more severe changes sometimes linked to earlier seizures or, in some people, differences in brain development.
How variants are linked to conditions
Pathogenic variants in the DEPDC5 gene are a well-established cause of DEPDC5-related epilepsy, especially familial focal epilepsy with variable foci. People with these variants may have focal seizures that start in different parts of the brain, including the frontal or temporal lobes. Some relatives who carry the same variant never develop seizures. Variants in the DEPDC5 gene are also linked to focal cortical dysplasia, a brain development condition seen in some epilepsy cases.
A variant is not necessarily a diagnosis
Genetic variants are a normal feature of human biology and are widely seen in the general population. Most do not have a direct effect on health and are simply part of natural human diversity. For many genes, carrying a variant associated with a condition indicates a possible link rather than a definite diagnosis, especially when several genes and environmental factors are involved. In some cases, though, a single well-characterized variant in a specific gene is enough to confirm a diagnosis.
Are there things that can increase or change my risk?
There is not yet broadly confirmed evidence on specific factors that clearly increase or reduce health risk related to the DEPDC5 gene. In families with a DEPDC5 change, the chance of seizures can vary a lot from one person to another, and common seizure triggers such as missed sleep or heavy alcohol use may still matter for some people.
Inheritance of DEPDC5 variants
DEPDC5-related conditions are usually inherited in an autosomal dominant pattern, which means a child can inherit the variant from one affected parent. If a parent carries a disease-causing variant in the DEPDC5 gene, each child has a 50% chance of inheriting it. This is the key point when explaining how DEPDC5 gene variants are inherited in families. Some people with a DEPDC5 variant are the first in their family to have it because the variant arose new (de novo), rather than being passed down from either parent.
What does my DEPDC5 result mean for my family?
DEPDC5 results are most often linked to a dominant epilepsy pattern, so close relatives such as parents, brothers, sisters, and children may also carry the same gene change and may want to discuss family testing. Some relatives may have seizures, while others may carry the variant and have few or no symptoms. In some families, the change is new in one person, so it may not always come from a parent.
Genetic information
Genetic testing
How you find out about variants
To find out whether you carry a variant in the DEPDC5 gene, doctors use DEPDC5 genetic testing on a blood sample or cheek swab. A lab reads the gene's DNA code and looks for variants that may help explain a person's seizure history or clarify whether a variant runs in the family.
When should I consider getting a genetic test?
Genetic testing for DEPDC5 may be worth discussing if you or your child has seizures that start in one part of the brain, especially if they began early, are hard to control, or run in the family. It can also help when a brain scan shows a small area where the brain did not develop in the usual way.
A genetic result is only one part of your health story
Genetic test results can provide useful insight, but how much they explain varies by the condition and the kind of variant involved. Over time, many factors, including lifestyle, environment, age, and medical history, also affect how the body works. For some conditions, especially those shaped by many genes, genetic information offers context rather than certainty and is most helpful when considered alongside other parts of care. In other situations, a genetic result can offer a clear answer. In areas such as medication response, genetic results can also help put individual experiences into context.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how your body responds to medicines. Small differences in genes can change how a drug is absorbed, broken down, transported, or how strongly it acts on its target. This helps explain why the same treatment works well for some people, works less well for others, or causes more side effects in certain individuals.
What is Pharmacogenetics?
Pharmacogenetics examines how differences in a person’s genes can affect their response to medications. It studies gene drug patterns to help explain why the same treatment may work differently from one person to another. For many medicines, genes can influence both how the body handles a drug and how strong its effects are. This understanding can support more informed, individualized treatment choices. More detailed information on this topic is available in the LearnHub.
Drugs influenced by the DEPDC5 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in predicting medication response. If you have concerns about seizures, side effects, or changes in how a treatment is working, speak with your doctor or pharmacist.
History
The DEPDC5 gene entered medical genetics fairly recently through research on families with focal epilepsy that seemed to run from one generation to the next. In 2013, several research groups linked variants in the DEPDC5 gene to familial focal epilepsies, marking an important step in understanding inherited seizure conditions. In recent decades, awareness of this gene’s role has grown as testing became more widely used in people with epilepsy and related brain changes. From these first observations, research expanded steadily, and DEPDC5 was recognized in a broader range of epilepsy patterns, including some occurring in people with no clear family history. This work helped clarify that some focal epilepsies have a distinct genetic basis, even when symptoms differ within the same family.