KCNQ2 2 Mile Awareness Fun Run
Sub-events Details
Virtual KCNQ2 2 Mile Fun Run
In-Person KCNQ2 2 Mile Fun Run
In-Person Packet Pickup:
Virtual Option:
ABOUT US
My wife (Edith) and I are starting this fun run to help raise awareness and funds for KCNQ2 epilepsy. Our daughter Claire was diagnosed with a KCNQ2 gene mutation which caused her to have seizures on her second day out of the womb. It has been a scary journey to reach this diagnosis with two flights to Seattle Children's hospital and several anti-seizure medications. We have her condition under control and she is a very happy and healthy baby.
We want to raise funds for an organization that has helped parents and those who have KCNQ2 connect to share stories and support one another. They also help promote genetic research to better understand this condition, and others that can cause epilepsy. More information about KCNQ2 can be found below as well as at kcnq2cure.org and kcnq2.org.
KCNQ2 is a gene involved in the proper functioning of a potassium channel in the brain. Abnormal changes, or mutations, in the gene are associated with seizures. KCNQ2-related epilepsies represent a spectrum of conditions from mild to severe. In 1998, mutations in KCNQ2 were associated with a mild condition called “Benign Familial Neonatal Epilepsy” or BFNE. Babies with BFNE have seizures that begin shortly after birth and then stop within several months. Development is usually normal. BFNE may run in families, as the name implies.
Researchers recently identified different mutations in KCNQ2 that are associated with a severe form of neonatal epilepsy. This severe, non-inherited (de novo) form has been called several names: KCNQ2 encephalopathy, KCNQ2-related neonatal epileptic encephalopathy, KCNQ2-deficiency syndrome, and KCNQ2-related epilepsy. As more patients are diagnosed with this emerging condition, doctors are finding that this mutation contributes to a spectrum of clinical outcomes that includes developmental problems ranging from moderate to severe.
KCNQ2 Developmental and Epileptic Encephalopathy (KCNQ2) typically present with seizures in the first week of life. Seizures appear as stiffening of the body (tonic) often associated with jerking and changes in breathing or heart rate. The seizures are usually quite frequent (many per day) and often difficult to treat. Typically, the seizures are associated with abnormal brain wave patterns on EEG during this time. The seizures in KCNQ2 often resolve within months to years but children have some degree of developmental impairment involving one or more domains (motor, social, language, cognition). There is wide variability in the symptoms of patients with a KCNQ2 diagnosis. Some have very limited, or no noticeable seizure activity and the developmental impairment can range from mild to severe, depending on a number of different factors. Some children may also have autistic features or other comorbidities.
Of patients reported in the medical literature, prognosis appears to be variable. Seizures may eventually come under control with medication. Most, but not all, children will have fewer or no seizures after approximately age 3 years, but developmental delays may become more evident as the child grows older. In the majority of KCNQ2-related epilepsy cases reported in the medical literature, the child is slow to speak and is dependent on caregivers. Early diagnosis by genetic testing may avoid unnecessary evaluations for other causes.
More information found here: