Frequently Asked Questions
The following are some of the most frequently asked questions associated with KCNQ2.
KCNQ is shorthand for the category of disorders caused by variants in the KCNQ2 gene. The KCNQ2 gene codes for the potassium channel, a structure on the surface of neurons responsible for regulating the electrical signals sent from the brain throughout the body. A variant in the KCNQ2 gene can cause disorders of varying severity and that are described with various names. This includes KCNQ2 epilepsy (which describes the seizure activity which is associated with the variant), KCNQ2 encephalopathy (which describes the developmental delays associated with the variant), or KCNQ2 developmental and epileptic encephalopathy (which describes both the seizures and developmental delays associated with the variant). The latter term is becoming the accepted name that best describes the characteristics of our community
There are several types of KCNQ2 variants, that are categorized based on both the origin of the variant and the severity of the resulting disease.
De novo variant: a variant that occurs spontaneously in the patient with the disease, and is not inherited from a parent.
- De novo KCNQ2 developmental and epileptic encephalopathy: the majority of the more severe cases resulting from KCNQ2 variants are caused by de novo (or “new”) variants in the KCNQ2 gene, not inherited from the patient’s parents.
- De novo benign neonatal epilepsy (BNE): a small percentage of the less severe, or benign neonatal epilepsy cases are a result of a de novo (or “new”) variant, and not inherited from the patient’s parents. In these cases, the spontaneous variant is in a location on the gene, or involves a variant, that does not cause significant symptoms beyond seizures during the neonatal period.
- De novo mosaic: a small percentage of the less severe patients may have a spontaneously-occurring (not inherited) variant that is associated with severe forms of the disease, as in KCNQ2 developmental and epileptic encephalopathy. However, in this case, the variant is not found in all of the patient’s cells, as the spontaneous error occurred later in the process of cell division and formation of the fetus. When the variant is only in a subset of the cells in the body (and the other cells have normal copies of the gene), the variant is known as mosaic. The result in these individuals is that their disease is less severe than it would be if the same variant were expressed throughout all of the cells. Because these individuals are not severely affected, they may go on to have offspring who inherit the severe variant of the variant from them, expressing it in all of their cells.
Inherited variant:
- Benign Familial Neonatal Epilepsy (BFNE) or Benign Familial Neonatal Seizures (BFNS): BFNE (which can also be known as BFNS) is a relatively mild form of the disease that is inherited from a parent. In this case, the variant in the KCNQ2 gene is in a location that does not significantly impact the structure and function of the potassium channel. These cases are referred to as “benign” as the symptoms are typically limited to early life seizures and do not impact cognitive function. In many of these cases the parents of the affected child may have experienced seizures in early life
- Inherited KCNQ2 Developmental and Epileptic Encephalopathy: In some, less common, cases the severe form of the disease may be inherited from a parent. In this case, a parent has a severe variant of the variant, but is themselves “mosaic” for the variant. This means the parent has only a subset of their cells affected by the variant, and thus does not display the severe symptoms him or her self. However, the severe variant of the variant may be passed on to the offspring, who may express that severe variant in all of his cells, resulting in a severe form of the disease.
Not everyone will have all the signs/symptoms listed here, and some may have other symptoms not mentioned.
- Seizures, tonic
- Seizures, clonic
- Multiple seizures daily at onset
- Onset of seizures in infancy
- Seizure frequency decreases during early childhood (many becoming seizure-free by age 3 or 4 years)
- Seizures are often unresponsive to treatment, particularly in early life
- Generalized stiffening
- EEG shows burst suppression pattern
- EEG shows multifocal epileptic activity
- Hyperintensities in the basal ganglia and/or thalamus on MRI
- Thin corpus callosum (in some patients)
- Reduced posterior white matter volume (in some patients)
- Automatisms (repetitive actions performed unconsciously)
- Delayed development (cognitive and/or motor)
- Intellectual disability
- Hypotonia (low muscle tone)
- Dystonia (abnormal muscle tone)
- Spastic quadriparesis
- Gastrointestinal issues (such as severe constipation or other distress)
- Variants may also occur de novo (not see in either parent)
- Variable severity of seizures seen in family members (in cases of inherited KNQ2 variants)
Learn more about the symptoms of KCNQ2
The vast majority of people diagnosed with KCNQ2 variants do have seizures, particularly frequent during early life (most beginning during the first week). However, there are patients who have been identified who have never had a documented seizure.
Learn more about the seizures in KCNQ2.
KCNQ2 is diagnosed through genetic testing. Early symptoms seen in people with a KCNQ2 variant, such as seizures or particular EEG patterns in the early neonatal period, and global developmental disabilities seen in all ages, typically warrant genetic testing. This can be done with a relatively inexpensive test of seizure-causing genes (a “seizure panel”, which includes the KCNQ2 gene, along with many other seizure-causing genes), or with more comprehensive genetic tests, such as whole exome sequencing (WES) or whole genome sequencing (WGS) which test for variants across nearly all genes.
We know that a KCNQ2 diagnosis can be overwhelming. You may be confused, scared, frustrated, or uncertain—and your emotions may change from day to day, sometimes even hour to hour. But you are not alone. You are now part of the KCNQ2 Cure community: a network of families, researchers, clinicians, and other professionals who are determined to make a difference.
Learn more about newly diagnosed resources for families dealing with a recent KCNQ2 diagnosis.
There is currently no FDA approved treatment for KCNQ2. There are currently two drug programs in development, one of which is being tested in clinical (human) trials. But our work is not done. We know what we need to do to develop and deliver effective therapies. And we are on the verge of further breakthroughs that will continue to change the course of KCNQ2 for everyone affected—from infants to adults—and eventually, lead to a cure.
Today, there are two drug programs in development specifically for KCNQ2, including one now in clinical trials. This means we’re getting closer and closer to an FDA-approved targeted therapy for people affected by KCNQ2. We continue to evaluate and fund research into new treatment approaches that may result in the best outcomes for those affected by KCNQ2 developmental and epileptic encephalopathy.
Learn more about the latest research developments and how the KCNQ2 drug pipeline is taking shape.
There not currently any clinical trials accepting enrollment of patients with KCNQ2 developmental and epileptic encephalopathy. However, we anticipate there will be opportunities with treatments under development. Please sign up for our mailing list to keep up with the news about KCNQ2, including opportunities to participate in clinical trials.
Learn more about participating in a clinical trial and how to locate open trials near you.
Research studies help experts better understand KCNQ2 developmental and epileptic encephalopathy. This includes understanding the impact of different variants of the mutation and the significant symptoms of the disease. KCNQ2 developmental and epileptic encephalopathy was discovered relatively recently, and it is critical that our community participates in research studies to support the development of treatments to address the needs of our patients. Ongoing studies include: a Natural History Study at Harvard/Boston Children’s Hospital, the RIKEE database at Baylor College of Medicine, a survey of parent-reported outcomes at Lurie Chicago Children’s Hospital, and a KCNQ2 sleep study at the University of Melbourne in Australia.
Learn more about participating in a research study.
Our family support team is committed to offering compassionate and respectful, support to all members of the KCNQ2 community. This includes resources for those who are newly diagnosed, information packets covering many of the issues important to families affected by KCNQ2, the Family and Professional Summit, information on daily life with KCNQ2, and access to a community of parents who have gone before you and are eager to share what they have learned.
KCNQ2 Cure has hosted the KCNQ2 Cure Family & Professional Summit since 2014. Our summit is an invaluable resource for the entire KCNQ2 community, bringing together researchers, healthcare professionals, and families to network, learn, and collaborate. The Summit is hosted every 18 months in various locations throughout the United States.
KCNQ2 Cure accepts donations online, or via mail.
We’ve already invested over $200,000 in research, and your support will allow us to continue funding the discoveries that will lead to a treatment and cure for KCNQ2. Your gift will also support vital programs for families affected by KCNQ2. There are numerous ways to raise funds for KCNQ2 Cure, including cash donations, donating your birthday as a Facebook fundraiser, hosting an event, or donating a vehicle. KCNQ2 Cure is a 501(c)(3). All contributions are tax-deductible.
Our work would not be possible without all the dedicated supporters who raise money and awareness for KCNQ2 Cure. Each year, our families and friends organize and participate in fundraisers that bring the entire KCNQ2 community closer to a treatment and cure. Our development team will provide the logistical and fundraising support you need to make your event successful and meaningful.
Our KCNQ2 Cure Summit is an invaluable resource for the entire KCNQ2 community, bringing together researchers, healthcare professionals, and families to network, learn, and collaborate over a 2-3 day period. Traditionally held every 12-18 months in the spring and fall, the conference location changes from year-to-year.
Learn more about the KCNQ2 Cure Summit.
KCNQ2 Cure has invested over $200,000 in KCNQ2 research. We currently offer funding for research projects in three areas: basic research, drug discovery, and clinical care. We also host the KCNQ2 Professional Roundtable in conjunction with the KCNQ2 Cure Summit. This allows researchers, healthcare providers, and families to interact with and learn from each other in person. When appropriate, KCNQ2 Cure also uses its connections to the KCNQ2 community to help researchers recruit for clinical trials.
KCNQ2 Cure’s commitment to the entire KCNQ2 community extends to those charged with providing care—including physicians, specialists, nurse or nurse practitioners, genetic counselors, physical or occupational therapists, nutritionists, social workers, and more. We educate healthcare professionals and the public about KCNQ2 developmental and epileptic encephalopathy, to enhance the quality of care and strengthen the support available to families. We work directly with clinicians, doctors, specialists, and skilled caregivers to ensure that patients have access to the best possible care.
Email us at info@kcnq2cure.org and we'll be glad to help answer your question and assist in making any connections or introductions.
