About KCNQ2

KCNQ2 is a gene that is located on the 20th chromosome of our DNA. It is sometimes abbreviated to Kv7.2. If it is coded correctly, it controls the potassium channel of every single cell in our brain. If the error is very rare, it is called a mutated gene. It is important to know that KCNQ2 is not a disease, but the name of the gene that is subject to the pathogenic changes.
‘K’ is the chemical symbol for potassium, which is a positively charged ion. CN is the abbreviation for the channel. The KCNQ2 gene is the second member of the Q subfamily, which means that the channel is voltage-dependent, i.e. it opens and closes depending on the charge in the cell’s environment.
A rough subdivision of the gene defect is possible into inherited or non-inherited (de novo) mutations. If the gene has been inherited incorrectly, this can possibly lead to a milder course. Affected individuals with a new mutation (de novo) may more often have a more severe form of the disease. A further subdivision can be seen in the type of change in the potassium channel. One speaks either of an enlargement (gain-of-function -> rather rare and more often a milder course) or narrowing/reduction (loss-of-function -> more frequent and more often a more severe course) of the potassium channel.
Unfortunately, there are very many positions at which the KCNQ2 gene can show a defect. Even those affected with the same variant can have different forms of the disease (the respective variant is listed in the report from the Human Genetics Institute). There are only a few parallels in the symptoms of the affected children, such as epileptic seizures, faulty muscle tone, speech and language difficulties, possibly autism spectrum disorder, developmental delays and disorders of all kinds.
It was only in 2011 that a child was diagnosed with the KCNQ2 gene defect for the first time.

In most cases, epileptic seizures begin in the first hours or days after the birth of the child. These seizures often already indicate the KCNQ2 gene defect.
There are many standardised ways to make a diagnosis. Specialists/neurologists decide on the sequence and possibilities of the clinic, taking into account the patient’s symptoms. For example, an EEG is usually written first, then urine, cerebrospinal fluid, blood etc. are checked. An MRI or CT scan is also arranged.
The diagnosis of the KCNQ2 gene defect is ultimately made using molecular genetic tests. The treating physicians must already know the clinical picture of the KCNQ2 gene defect in order to order the corresponding genetic test. A genetic test is carried out to look for mutations in a number of genes that are associated with childhood epilepsy.

The biggest medical challenge for doctors and researchers is to find or develop drugs to better control epilepsy and not severely inhibit the development of those affected. It is important to know why the seizures occur so that the right medication can be administered. Anticonvulsants have many different mechanisms of action and it is not entirely clear which drugs are most suitable for KCNQ2. The mutation in KCNQ2 means that the potassium channel is too large or too small. In practice, seizures in children with KCNQ2 gene defects are treated with a wide range of different drugs, usually in combination. If the seizures do not respond to the medication, other treatments such as special diets can be considered. Currently, medicine uses so-called sodium channel openers as medication. This diversions attempts to achieve a normal flow through the potassium channel so that the cell can function normally and the patient’s symptoms are reduced.
All symptoms of this genetic defect are treated with various therapies in addition to medication. These possible therapies can support the development of those affected: Physiotherapy, occupational therapy, speech therapy, riding therapy, swimming therapy, early intervention. The therapies are prescribed in consultation with the treating doctors and development is monitored.

We know that a KCNQ2 diagnosis can be overwhelming. As parents of children with a KCNQ2 genetic defect, we know what it’s like to feel overwhelmed and isolated.
It is very close to our hearts and therefore counselling affected families is a very important (if not the most important) task. Especially in the first few weeks after the birth – when everything is new and nerve-wracking anyway – the diagnosis and its consequences can come as a full-blown storm. We want to be a small anchor and a point of contact.
We offer insight into life with KCNQ2, provide advice on a wide range of topics and have built up a large network. We organise parent meetings with scientific presentations (online and on site), we collect donations, we are on Facebook and Instagram and offer a newsletter. We accompany you and your families on your journey.
Do you need rehab funding? Do you need help with applications? Who is researching the genetic defect? Which therapies are recommended? What is the situation in other countries/associations? What happens with donations? How do I become a member?
You can find further help, tips and tricks in the parent support group on Facebook.