Finding solutions for children with a rare form of epilepsy.
KCNQ2 epileptic encephalopathy
Epilepsy is one of the world’s most common diseases. Seizure is the hallmark symptom, caused by nerve cells in the brain firing excessively. Many subtypes of epilepsy exist, varying in cause, severity, and age of onset.
A rare form of epilepsy in newborns, with frequent seizures beginning in the first days or hours of life, is called KCNQ2 epileptic encephalopathy (KCNQ2-EE). This disease is caused by certain mutations in a gene called KCNQ2.
Under normal circumstances, the KCNQ2 gene produces a protein, Kv7.2, which acts like a brake to prevent excessive firing of nerve cells in the brain. Mutations in the gene “cut” the brakes.
Infants born with KCNQ2-EE experience not only frequent seizures, but also profound developmental delay, and sometimes early death.
Treatment of newborns with KCNQ2-EE requires the coordinated efforts of multiple specialists.
Existing anticonvulsant drugs have limited benefits in children with KCNQ2-EE, even when used in combination. While these drugs sometimes reduce seizures, they do not treat the underlying disease caused by KCNQ2 gene mutations, which affect brain development.
Published clinical and laboratory evidence suggests that restoring the function of the Kv7.2 protein corrects deficiencies caused by KCNQ2 mutations, creating hope that Kv7 drugs may control seizures and improve or normalize brain development.
Knopp's pipeline consists of investigational drug products that have not been approved by the U.S. Food and Drug Administration. These investigational drug products are still undergoing clinical study to verify their safety and effectiveness.