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.

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.

The symptoms of the KCNQ2 gene defect are treated with medication and various therapies that can support the development of affected children. These therapies include physiotherapy, occupational therapy, speech therapy/UK (supported communication), early intervention, motor therapy, autism therapy, osteopathy, movement therapies with a special focus such as riding or swimming therapy. The therapies are prescribed in consultation with the treating doctors. The child’s development is monitored and documented during the course of therapy. Adjustments to the form, duration and intensity are made after consultation. In most cases, the health insurance company will cover the costs of the therapies.

Physiotherapy
Physiotherapy is of central importance for many children with KCNQ2 gene defects and often begins in the first few months of life. Active and passive techniques are used to improve the body’s ability to move and function. This includes strengthening the muscles and training specific movement sequences such as sitting, standing up or walking. Regular training can lead to significant progress.

Bobath
The Bobath concept is a therapeutic method in physiotherapy that was developed specifically for people with motor and neurological developmental disorders. It aims to promote the motor skills of infants, children, adolescents and adults by focusing on individual strengths. It was developed in the 1940s by the physiotherapists Berta and Karel Bobath.
Treatment begins with a comprehensive examination by the physiotherapists, who then draw up a customized treatment plan. Instead of emphasizing deficits, the focus is on the child’s existing abilities and their promotion. Age-appropriate movement stimuli and experiences are used to support motor learning. Key techniques are “handling” and “facilitation”, in which the therapists actively support the child’s movement sequences and body awareness. The therapy is designed in such a way that it is relevant to everyday life and provides the caregivers with strategies to promote interaction with the child in everyday life.

Vojta
Vojta therapy is also a form of physiotherapy and a neuromotor treatment method based on the principles of neurological development. It was developed by the Czech doctor Václav Vojta and is often used with children to treat motor and neurological disorders.
The therapy uses certain body positions and touch to trigger reflexes that promote natural movement development. These reflexes help to improve muscle control and coordination. Vojta therapy takes into account the child’s entire posture and movement mechanics, which leads to better body awareness and control. The treatment is individually tailored to the needs of each child. Therapists observe and analyze the movement patterns in order to adapt the therapy accordingly. The earlier the therapy is started, the more effective it can be.
In Germany, Vojta therapy is generally covered by statutory health insurance if it has been prescribed by a doctor. The prerequisite is that the treatment is medically necessary and a corresponding diagnosis has been made. Doctors issue a prescription for physiotherapy and the therapy is then covered by the health insurance company.

Home visits
In many cases, physiotherapy treatments can also be carried out outside the practice, for example as a home visit at home, in a daycare center or school. It can be an advantage if the therapy takes place in a familiar environment. The familiar atmosphere facilitates access to therapy and ensures that the child can relax better and concentrate on the exercises.
It is important that the doctor’s prescription explicitly includes a home visit. This is the only way to ensure that the therapy is also legally covered at daycare, school or at home and that the health insurance companies will cover the costs. Another advantage of offering therapy directly at the daycare center or school is that it takes the pressure off parents.

Galileo Therapy
The Galileo Therapy method is a form of vibroacoustic therapy that uses specialized vibratory stimuli to promote motor development and overall health in children, including those with neurological conditions.
The therapy uses a plate that generates vibrations to stimulate the muscles and nervous system. These vibrations can help to improve muscle strength, balance and coordination. The therapy aims to promote motor control and mobility.
In Germany, Galileo therapy is generally covered by statutory health insurance if it has been prescribed by a doctor. The prerequisite is that the treatment is medically necessary and a corresponding diagnosis has been made. Doctors issue a prescription for physiotherapy and the therapy is then covered by the health insurance company.

Occupational therapy
Occupational therapy aims to promote children’s independence, motor skills and quality of life. Occupational therapists work to improve both gross and fine motor skills to help children better manage everyday movements and tasks. Therapy focuses on developing skills that are important for everyday life, e.g. dressing, eating and hygiene. The aim is to increase the child’s independence. Occupational therapy can use sensory integration techniques to help children better process and respond to sensory information, which is particularly important for children with neurological impairments. Therapy is individualized to each child’s needs and abilities. Occupational therapists often use playful elements to encourage motivation and make the therapy engaging. Doctors issue a prescription and the therapy is covered by health insurance companies.

Speech therapy
Speech therapy is designed to promote linguistic, communicative and oral skills. Speech therapists work to develop language skills by providing targeted exercises in articulation, vocabulary development and grammar. In addition to language development, there is a focus on improving non-verbal communication, including gestures, facial expressions and supportive communication aids to facilitate interaction. Therapy includes exercises to strengthen oral motor skills to improve feeding and articulation. Doctors issue a prescription and the therapy is then covered by health insurance.

Castillo Morales therapy
Castillo Morales therapy is a special rehabilitative method that is primarily used for children with neurological impairments. It was developed by the Argentinian physician Dr. Andres Castillo Morales and aims to promote motor skills, breathing and oral function.
The therapy looks at the child as a whole and takes physical, emotional and social aspects into account. Through targeted exercises and stimulation of the senses, the child should develop better body awareness, which supports motor control. Various techniques are used, including manual therapy, breathing exercises and targeted mobilization to improve mobility and functionality. The therapy includes special exercises to improve oral motor skills, which can promote food intake and speech. As this is part of speech therapy treatment, it is regularly covered by health insurance.

Augmentative and Alternative Communication
Augmentative and Alternative Communication (AAC) refers to various methods and aids that help people with communication disorders or limitations to express themselves and communicate. Support can be provided using different technologies and approaches, such as sign language, communication aids (such as communication boards or panels), speech computers or eye control systems. Here too, a doctor’s prescription is required.

Early intervention
Early intervention refers to targeted measures and programs aimed at supporting the development of children in the first years of life, especially if they have special needs or show developmental delays. The aim is to support children in their physical, cognitive, social and emotional development as early as possible in order to prevent later problems and increase their chances of positive development. Early intervention can take place in specialized facilities (e.g. early intervention centers) as well as in the form of services in the home environment or in kindergartens. If prescribed by a doctor, the costs are covered by health insurance companies.

Motopedics
Motopedics is a therapeutic method that focuses on promoting the motor and holistic development of children. It combines movement, perception and education to support the physical, cognitive, social and emotional development of children, particularly in the case of developmental delays or disorders. A doctor’s prescription is also required here.

Autism therapy
Autism therapy includes various interventions and approaches that aim to improve the quality of life of people with autism spectrum disorders (ASD). The main goal is to promote their social, communicative and cognitive skills and reduce challenging behaviors. As autism can have very different manifestations, the therapies are individually adapted to the needs and age of the person concerned.

Osteopathy
Osteopathy is a holistic form of therapy based on the idea that the body is a unit and that the health of the body is influenced by the interaction of muscles, joints, bones, organs and nerves. Osteopaths assume that many complaints can arise from disorders in the body’s mobility or imbalances in the musculoskeletal system. The aim of osteopathy is to release these blockages or restrictions, improve bodily functions and support the healing process. In most cases, the treatment must be paid for by the patient. In some cases, supplementary insurance may apply.

Feldenkrais Method
The Feldenkrais Method is an approach to improving the ability to move.
The gentle, mindful movement exercises of the Feldenkrais Method can help to promote mobility and coordination in children with motor impairments. The method aims to sharpen body awareness. Children learn to perceive and control their movements better, which can promote their independence in everyday life. The gentle movement can relieve tension and pain, which can contribute to a general sense of well-being.

Anat Baniel Method (ABM)
Anat Baniel Therapy is a movement-based method for promoting neurological and motor development. It was developed by the Israeli physiotherapist Anat Baniel and aims to stimulate the brain through targeted movement exercises and improve self-awareness. ABM is based on the idea that the brain is capable of reshaping and developing itself through new experiences and movements.
The therapy promotes the conscious experience of movement in order to improve body awareness and control. The children learn to move themselves and to control their movements better. Each session is adapted to the specific needs of the child to ensure personalized and effective therapy. The exercises are often playful and gentle to encourage motivation and not overwhelm the child. The cost of therapy is not covered by health insurance and must be paid by the child.

Cranio-sacral therapy
Cranio-sacral therapy is a gentle, manual treatment method that focuses on the cranio-sacral system, which includes the brain, spinal cord and surrounding structures. This therapy was developed by Dr. John Upledger and aims to release tension and blockages in the cranio-sacral system to promote health and well-being. Cranio-sacral therapy can be used for a variety of conditions, including headaches, migraines, stress, chronic pain, developmental disorders and more.
The therapy uses very gentle, non-invasive touch to feel and influence the movement of the cranio-sacral fluid circulation. The aim is to identify and release tension and blockages in the body that may be caused by stress, trauma or other factors. The therapy supports the body’s natural healing processes by promoting self-regulation and neuroplasticity. Each session is tailored to the individual needs of the child, taking into account the physical and emotional aspects. The costs are not usually covered by health insurance.

Hydrotherapy
Hydrotherapy uses the properties of water to promote motor skills, relieve pain and improve overall well-being.
The movements in the water can provide gentle massages while creating resistance, promoting muscle strength and coordination. The temperature and buoyancy of the water can help to relax muscles and relieve stress. Due to the buoyancy in the water, children experience reduced stress on their joints, making movement easier and reducing the risk of injury. Hydrotherapy can help to improve movement coordination and balance, which is particularly important for children with motor impairments. Therapy is adapted to the specific needs of the child to achieve optimal progress. Water often provides a playful element, which can increase children’s motivation and make the therapy more enjoyable. The costs of water therapy are covered by health insurance companies on prescription

Dynamic Movement Intervention (DMI)
Dynamic Movement Intervention (DMI) is a therapeutic method that aims to promote motor skills and general development in children, especially those with neurological impairments or developmental disorders. DMI was developed by physiotherapist Dr. Susanne O’Connor and uses the principles of neuroplasticity to improve motor control and movement coordination.
DMI focuses on stimulating natural movement patterns to enhance body awareness and motor skills. The intervention is tailored to the specific needs of each child, taking into account therapeutic progress and individual goals. DMI takes a holistic view of the child, including their physical, emotional and social development. The method promotes learning through movement and uses playful elements to increase children’s motivation and engagement.
In Germany, DMI therapy is not covered by statutory health insurance as standard, as it is not one of the classic, established forms of therapy such as Bobath or Vojta. Even if the therapy is considered medically necessary by a doctor, it is not usually included in the benefits catalog of statutory health insurance companies. This means that people with statutory health insurance usually have to pay for the therapy themselves.

INPP Neuromotor development support
INPP therapy (Institute of Neurophysiological Psychology) is a therapeutic method that aims to treat the neural basis of learning and behavioral problems in children. It was developed by the British psychologist Dr. Sally Goddard and is based on the assumption that many developmental difficulties, such as learning difficulties, ADHD or coordination problems, are caused by inadequate integration of early childhood reflexes.
The therapy includes specific daily exercises to integrate these reflexes and promote neurological development. The therapy is often used in combination with other therapeutic approaches and can be individually adapted. The costs are not covered by health insurance and must be borne by the patient.

Riding therapy
Riding therapy offers a combination of motor development and psychosocial support. The horse’s movements improve muscle strength, coordination and balance, which significantly boosts the children’s motor skills. At the same time, riding helps to strengthen body awareness and improve sensory integration.
A central aspect of equine therapy is the emotional support that children experience through contact with horses. The relationship with the animals can boost children’s self-confidence and reduce anxiety. In addition, the therapy is often designed to be playful, which can increase children’s motivation and make learning appealing. Curative educational support is not covered by health insurance and therefore usually has to be financed privately. In special cases, riding therapy can also be covered. If an illness is certified, doctors can prescribe the therapy.

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.

It makes sense to organize these documents well and update them regularly so that the necessary information can be accessed quickly and easily when needed. The documents should be kept separately and easily accessible. Digital copies allow quick access and protect against loss.

1. emergency information: A document containing information relevant to emergencies such as medication schedules, allergies, medication intolerances, seizure protocols, important contacts or special instructions for care.
2. medical/therapeutic records: This includes diagnoses, treatment histories, findings and therapy reports documenting the child’s state of health.
3. insurance documents: information on health insurance, long-term care insurance or private supplementary insurance for special needs.
4. certificate of severe disability: If the child is recognized as severely disabled, the certificate is important for access to special benefits and support.
5. living will or health care proxy: if applicable, to regulate decision-making in health matters, especially for older children and adolescents.
6. disabled person’s will: a special will that is used to make inheritance arrangements for a person with a disability. It is often used to ensure that the inheritance of the disabled person does not lead to a loss of state benefits or social assistance.
7. declarations of assumption of costs: Documents that prove which therapy and assistive technology measures are covered by health insurance or other agencies.
8. applications for integration assistance: These can help to obtain financial support for therapies, aids or additional care.
9. documents for daycare and school: individual support plans, reports and, if necessary, certificates for special educational offers or additional support in daycare and school.
10. family help and support services: Information about possible services from youth welfare offices or other social institutions.

As KCNQ2 sufferers often have specific challenges, various assistive devices can be helpful to improve quality of life and independence. The choice of assistive devices will depend on the needs and challenges of each individual child and it is important to seek the support of a team of professionals to find tailored solutions.

1. drug therapies: Anticonvulsants (epilepsy medication) to control seizures are essential. Medication should be selected and monitored in close consultation with neurologists or epileptologists.
2. monitoring systems: Monitoring devices for sleep (e.g. wearable devices, special mattresses, bracelets or alarms) that detect when a seizure occurs during sleep and sound the alarm in an emergency.
3. structural changes to the living space: barrier-free entrance, wider doors, barrier-free bathroom, open living spaces and avoidance of tripping hazards, installed lift systems
4. special furniture: safety furniture (e.g. upholstered furniture) for accident-free room design, height-adjustable furniture, care beds to ensure safety and simplify the care of older children
5. aids for sleep: special mattresses, pillows or positioning and sleep systems that support better sleep
6. mobility aids: wheelchairs, walking aids, rollators, orthoses, therapy chairs, standing trainers, therapy bicycles and positioning systems to promote mobility. Lift systems installed in the living room or mobile lift systems support the caregivers in carrying and moving. If necessary, adapted therapy helmets to protect the head in the event of a fall.
7. safe means of transportation: rehab buggies, wheelchairs and specially adapted car seats to ensure safety during the journey.
8. therapeutic aids: aids to improve motor skills and support everyday activities, e.g. gripping aids, special cutlery, pens or tools. Communication aids such as picture cards, special apps or talkers that facilitate communication. Toys and devices that provide sensory stimulation.
9. aids for hygiene care: diapers, disinfectants, gloves, bath seats, toilet chairs/seats
10. support services: the association KCNQ2 e.V., access to self-help groups, counseling services and therapists to meet the emotional and psychological needs of families.

The 18th birthday is a special day. On this day, you come of age in Germany. When a disabled child turns 18, a lot changes in the legal and social framework. Parents of adult disabled children face special challenges and responsibilities. What many do not know: Even for young people with disabilities, parents can now no longer make decisions without further ado.
Good planning, timely information and a strong support network are crucial. We have put together some helpful aspects:

• Legal representation: from the age of 18, the child has full legal capacity. The parents’ custody ends when the child reaches the age of majority. However, if they are unable to make their own decisions due to their disability, you should consider a power of attorney or a care directive. This can be used to set up a representative for important matters such as medical decisions or financial matters. In many cities, there are care associations that can provide advice.
• Financial security: The child’s financial situation must be clarified, including entitlements to social benefits (e.g. basic income support, employment assistance, care insurance) and the question of inheritance or assets. It may be advisable to consult a lawyer.
• Identity card requirement: An identity card must be available from the age of 16.
• Living situation: It should be considered whether the child can continue to live at home or whether assisted living (residential groups) or an inpatient facility would be an option.
• Health insurance: Disabled children can remain permanently covered by family insurance. The prerequisite for this is that they cannot support themselves. However, if the child is employed in a workshop, for example, they must insure themselves.
• Disability will: This special will is used to make inheritance arrangements for a person with a disability. It is often used to ensure that the inheritance of the disabled person does not lead to a loss of state benefits or social assistance.
• Integration assistance: Integration assistance benefits are provided to disabled people who are significantly restricted in their equal participation in society. Is your child entitled to integration assistance? Find out about the necessary changes and applications in order to continue to receive the support they need.
• Vocational integration: Consider how your child can be integrated into working life, possibly with the support of workshops for disabled people, vocational training centers or integration projects that offer special programs for vocational qualification.
• Self-help groups and networks: Network with self-help groups or counseling centers (such as ‘Lebenshilfe’) that focus on the development of young adults with disabilities. These can provide valuable information and support.
• Emotional support: Support your child emotionally during this transition phase. It is important that they feel safe and supported in this new phase of life.

We would like to give you an insight into how your donations are invested in our work for KCNQ2.
Through your commitment, we can provide essential resources that may be unaffordable for many families.
Your financial contributions play a crucial role in our work and enable us to provide targeted support for KCNQ2 research.
We use the donations to organize family meetings that offer space for exchange and support. At these events, we invite experts who support the families with their knowledge and experience. These encounters are invaluable – they not only promote the exchange of ideas, but also access to important information and resources.
Another important concern is to support our active and volunteer members. We sponsor their travel related to the association, as well as professional training relevant to the association’s work. In this way, we ensure that our team is always well informed and can provide the best possible support.
One example of our support is the sponsorship of the renowned doctor Prof. Dr. Sarah Weckhuysen from the University of Antwerp, who specializes in genetic epilepsies.
We also support innovative projects such as the KCNQ2-REGISTER at Heidelberg University Hospital, which collects important data and helps to improve the treatment and care of our patients.
Your contribution, no matter how small, makes a difference! Together we can achieve great things and make a significant contribution to the future of our young and old fighters. Every donation helps us to continue on this path and provide much-needed support.