Frequently Asked Questions

1. Seizures, tonic 
2. Seizures, clonic 
3. Multiple seizures daily at onset 
4. Onset of seizures in infancy 
5. Seizures are often unresponsive to treatment, particularly in early life 
6. Generalized stiffening 
7. EEG shows burst suppression pattern 
8. EEG shows multifocal epileptic activity 
9. Reduced posterior white matter volume (in some patients) 
10. Delayed development (cognitive and/or motor) 
11. Intellectual disability 
12. Hypotonia (low muscle tone) 
13. Dystonia (abnormal muscle tone) 
14. Gastrointestinal issues (such as severe constipation or other distress) 

Variants may also occur de novo (not seen in either parent.)

No, KCNA2 is not degenerative in nature.  However, depending on the severity of seizures and certain comorbidities, some individuals with KCNA2 may experience degenerative aspects. One example noted by parents is that when a child experiences hypertonia in their extremities, movement, strength, balance, and how effectively they can use their limbs may become more challenging over time.

Parents and caregivers usually observe early symptoms such as “staring spells”, irritability, difficulty sleeping, seizures, difficulties with balance (ataxia), delayed or labored speech, or some delay in the development of milestones.  When these concerns are addressed with the child’s pediatrician, further assessment is usually suggested, including genetic testing.  KCNA2 can be diagnosed through genetic testing.  The pediatrician may also request an EEG assessment.  An EEG is an electroencephalogram that records brain activity and can detect seizure activity.  The results of genetic testing, EEG patterns, and an observation of how the individual is functioning will determine the course of treatment related to medication and therapy.

Many parents who have children diagnosed with KCNA2 ask this question. At this time, there are no known cases of a child dying directly from having a KCNA2 mutation. However, it is possible that death can occur from symptoms common to KCNA2 such as a seizure, or an accident or fall caused by a seizure. Overall , children with any severe neurologic disorder are at higher risk of early death than the general population. Currently, there are several people diagnosed with KCNA2 who are in their 40’s and 50’s, illustrating that individuals diagnosed with KCNA2 do live well into adulthood.

KCNA2 is a gene involved in encoding the potassium channel Kv1.2-neurons. The three known types of KCNA2 mutation are the gain of function (hyperexcitability of the potassium channel), loss of function (electrical silencing of the potassium channel), or a combination of a gain and loss of function.

Unfortunately, there is not one answer to this question. With the wide spectrum of KCNA2 cases, every child is different. Some people diagnosed with KCNA2 will have little to no impact on their development whereas others will be severely impacted. So far, research has shown that those with the loss of function variant will be least impacted, then the gain of function variant can see some very significant impairments, and finally, the mixed gain and loss of function variant typically displays itself with the most severe developmental and cognitive disabilities. Keep in mind that these are only generalizations from the small group of known KCNA2 cases. We are working to facilitate KCNA2 research that can more specifically answer these questions.

At the present time, there is not available data to support a quantitative answer to this question.  However, we do know that seizure activity in the brain interrupts concentration, attention, learning and sleep.  Therefore, it seems to take longer to learn a task and more repetitions may be necessary to learn new information.  As a result, learning across the board may be delayed in all or several areas.  The pace at which one can learn can change over time and there is no way to predict a pattern of changes.  One thing common to most KCNA2 patients is that they do improve over time.  These children can learn skills and improve with each skill in time.

At this time, there is no cure and no FDA approved treatment for KCNA2. Current literature available about KCNA2 is often qualitative, and focused on identifying characteristics of those individuals diagnosed with KCNA2. Characteristics such as age, symptoms, specific prototype, and course of treatment are often highlighted.  Although this information creates a general picture of individuals diagnosed with KCNA2, clinical trials focused on specific treatment options are few and not readily available At this time.  There is a lot of work to be done for infants through adults who are diagnosed with KCNA2.  The KCNA2 Parent Group/Connection (FB) and the KCNA2 Epilepsy Global Connection web site serve as the foundation for parents and professionals from around the world to come together and promote awareness, education, research, and effective therapies for KCNA2 families.  Ultimately, we will find a cure

No. KCNA2 patients are on a wide range of medications, usually including multiple anti-seizure medications.  However, additional medications can be prescribed for other symptoms common to KCNA2, such as gastrointestinal or sleep issues.  Each patient may respond to medications differently, so medications and symptoms are closely monitored on an individual basis.  Hopefully, with more research, we can better understand the similarities and differences between KCNA2 gain, loss and mix of function.  This understanding may guide our choices of medications in the future, resulting in more effective seizure and symptom control.

 If you have been diagnosed with KCNA2 or are a caregiver to someone who is, you can ask to join a private Facebook page called KCNA2 Epilepsy Parent Group/Connection.  Over 50 families from around the world have joined since the group was introduced in 2017.  On the site, you can read about other families.  They are listed under, “Stories, Around the Globe”- Our KCNA2 Family”.   As our website evolves, we will feature video meetings on specific KCNA2 topics. There you can connect with KCNA2 families from around the world. Eventually we will host a KCNA2 conference so parents and professionals can meet in person.

Do your best to identify and attend to the specific needs of all your children. You may need to restructure your time so you spend quality individual time with each of your children.  You can also teach your other children (as age appropriately as possible) what KCNA2 is and how they can support their sibling. This may help them gain a sense of control, understanding, and feel a part of a loving family who is supporting a family member.  Spend time listening to your “healthy” children so you can understand life from their perspective in terms of their experiences, opinions, emotions and needs.  This will ensure that they do not feel ignored. This may also prevent acting out behaviors that frequently occur when a child is in need of attention.

There are no significant research studies specific to KCNA2 at this time. Currently, there are “single case studies” that occur sporadically with one patient at a time to monitor a trial of a medication. The idea of creating this web site is to promote research specific to KCNA2 in an effort to develop a better understanding of the mutation and effective treatment.

Movement that is shaky and unsteady.  This results from the brains inability to regulate the body’s strength, balance, posture, and smooth movements.

This means the mutation is “new”.  The chromosome abnormality found in the individual is ‘de novo’ when it is not inherited from either biological parent.  They can confirm this by testing each biological parent and find that neither parent has the abnormal chromosome found in the offspring.

EEG is an abbreviation for electroencephalogram.  It is a technique for studying the electrical current within the brain.  Electrodes are attached to the scalp.  Wires attach these electrodes to a machine which records the electrical impulses.  The results are displayed on a computer screen and can be printed out.  Different patterns of electrical impulses can denote various problems in the brain including different forms of epilepsy.  Some EEG’s are conducted for a few hours and some for a few days.  Depending on the goal of the EEG, data is collected to see how the electrical impulses in the brain look during sleep and while awake.  Some individuals are monitored after sleep deprivation.

Uncontrolled electrical activity in the brain that may cause the body to physically convulse.  There are several types of seizures including Absence Seizures (Petit Mal), Myoclonic, Tonic and Atonic (Drop Attacks) and Tonic-Clonic seizures (formally called Grand Mal seizures).

Epilepsy occurs when the neurons of the brain (nerve cells) fire electrical impulses at a rate of up to four times higher than normal.  This causes an “electrical storm”.  As a result of these  hyperactive electrical impulses, the brain seizes, interrupting normal brain activity.  Medication can be used to regulate the rate of electrical impulses in an attempt to stop seizure activity.

A gene is a very small structure inside almost every cell of the body.  They carry the instructions, or blueprints, that tell our body how to grow, develop, and function in terms of building necessary proteins.  These instructions result in the development of one’s characteristics such as eye color, height and blood type.  There are approximately 35,000 genes in the human body.

The chromosomal complement of an individual, including the number of chromosomes and any abnormalities.  The term is also used to refer to a photograph of an individual’s chromosomes.

This is an educational session to learn about genes, genetic conditions, heredity, and how genes are passed from one generation to another. Genetic counseling can explain how some conditions pose a risk for developing specific conditions and why some conditions are considered ‘de novo’.  Genetic counseling is an opportunity to learn about a genetic diagnosis and the meaning of a specific mutation.  It is a place to ask questions that pertain to treatment and management of a specific condition.

Genotype describes the genetic make-up of an individual, not their outward characteristics.  A phenotype is an observable trait of an individual such as their eye color, height, weight, or the presence or absence of a condition such as an intellectual impairment.

A condition marked by an abnormal increase in muscle tension and a reduced ability of a muscle to stretch.  HYPER relates to too much tension.

A condition marked by an abnormal decrease in muscle tension and an increase ability of the muscle to be floppy and stretch.  HYPO relates to not enough tension.

MRI is an abbreviation for Magnetic Resonance Imaging.  This is a radiology scan technique that uses magnetism, radio waves, and a computer to produce images of body structures.  The individual is placed in a very large circular tube and inserted into a magnet.  The magnet creates a strong magnetic field that combines with beams of radio waves that produces a signal that can be detected by the receiver portion of the MRI scanner.  The image is translated by a computer.  The resulting image can detect tiny changes and structures within the body.

KCNA2 was identified through genetic testing in about 2015. Research about this potassium channel related gene is in its infancy.  However, in the past two decades, research about seizures and epilepsy in general has evolved.  In that time, many separate organizations have been formed that focus on rare genetic mutations that cause seizures.  Collectively, these groups are referred to as RARE Epilepsies.  As awareness increases about KCNA2, so will research leading to effective treatments.