About CYFIP2
CYFIP is one of the 5 proteins that assemble the WAVE Regulatory Complex (WRC). The WRC relies on delicate and precise interactions from these protein subunits in order to carry out certain processes within the body, such as actin dynamics. Actin is an important player in cellular motility and transcription and participates in more protein to protein interactions than any other known protein. Aside from being involved in actin dynamics, the WRC plays a crucial role in synaptic plasticity, which is an important process of the brain. The CYFIP2 gene was first associated with Early Infantile Epileptic Encephalopathy in 2018. While research into CYFIP2 EIEE has increased over the last few years, there are still not many reported cases and much left to learn.
Clinical Features of our Community
Variants in the CYFIP2 gene weaken WRC interactions and result in muscular hypotonia, seizures and intellectual disabilities. Other reported symptoms have included feeding/swallowing difficulties, NG/G tube dependence, leukopenia/neutropenia, vision impairments, GERD, microcephaly and developmental delays. It appears that some CYFIP2 variations result in milder symptoms than other CYFIP2 variations.
Our Mission
CYFIP2 Network was founded in 2023 by two parents who struggled to find information and support during the early days of their child's diagnosis. While located locally in North Carolina, we support CYFIP2 families all over the world. While still a young organization, we are proud of the small community we have become, providing support and information to CYFIP2 families. We work hard each day to raise awareness and drive research efforts for this condition.
I am Especially Proud of...
While searching for support and answers regarding my own son's condition, I joined many support groups and none of them ever made me feel like I belonged. I never felt like there was a shared understanding. I always felt like our story was not the story of others in the group. With each group that I joined, my search became a little bit closer to what I was looking for. The last support group I joined helped me to locate 2 families with CYFIP2 conditions and it was then, that I thought "Okay, now we are getting somewhere, this is where we belong." I am proud to now share this group with others on their search for answers.
Excited to REN Because...
REN's research initiatives are exactly what our community needs. These approaches will not only help children and families of CYFIP2 conditions, but children and families of many types of rare epilepsies. I am excited to see where this community and the research takes us, especially as genetic treatment approaches become more of a research interest.
My Journey and Motivation...
My son's smile is my motivation. Before he was born, I was a pilot with very minimal medical knowledge. I had never even witnessed a seizure. I never imagined we would be on the journey that we are on today. If our efforts make a difference, to help even one person find support, then it will all be worth it.
By Michelle Woznica, Founder