KCNQ2 Epileptic Encephalopathy: Overcoming Hurdles to Effective Disease-Modifying Therapy

Baylor College Of Medicine, Houston TX

Investigators

Linked publications & trials

Abstract

? DESCRIPTION (provided by applicant): Variants in the gene KCNQ2 are newly recognized as causes of epileptic encephalopathy. KCNQ2 related illnesses include very severe disorders affecting children from birth, leading to epilepsy and difficulties with brain functions needed for taking food, controlling movement, and learning to speak. About two thirds of affected children are severely to profoundly impacted, and show little or no development of normal cognitive, motor, language, and social milestones. The group of children that do show slowed by partial development are affected by autistic behaviors and risk of recurrent epilepsy. This application seeks funds for a meeting of expert scientists and doctors working to understand this disorder and develop new treatments. Participants include basic scientists with experience studying the voltage-gated potassium channels encoded by KCNQ2 and related genes, geneticists, and neurologists who specialize in diagnosis and treatment of neonates, infants, and children with epileptic encephalopathy. In addition, trainees engaged in research on these topics will attend and present their findings. The goal of the meeting will be to summarize and share current knowledge among participants and across disciplines, and develop specific action items for next steps in basic and clinical research. Findings will also be summarized in a peer reviewed publication.