Our Mission

The mission of the CYFIP2 Network hopes to raise awareness of CYFIP2-related Early Infantile Epileptic Encephalopathy, provide families of EIEE with resources and support, while supporting research efforts focused on this condition. 

What is EIEE and how is CYFIP2 involved?

EIEE: Early Infantile Epileptic Encephalopathy or Developmental and Epileptic Encephalopathy

or sometimes referred to as Ohtahara Syndrome.

EIEE is a rare infantile seizure disorder that typically presents in the early months of life. EIEE characteristics include specific, abnormal electroencephalographic patterns, often medication-resistant seizures, developmental delays and a wide spectrum of other related symptoms. There are many different causes of EIEE and symptoms/presentation varies from mild to severe. The CYFIP2 gene is one of the many genes associated with EIEE. Variants in the CYFIP2 gene are associated with EIEE 65. 

CYFIP2 related EIEE has an incredibly small number of reported cases and research is scarce.

Of these reported cases, associated symptoms have included medication resistant seizures, severe leukopenia/neutropenia, speech delays, feeding/swallowing difficulties, GERD, vision impairments, developmental delays, hypotonia, and others.

THIS IS WHY MEDICAL RESEARCH AND CYFIP2 TARGETED TREATMENTS ARE OF URGENT NEED.