Get to Know CYFIP2 Network

I will never forget what it felt like to hear the words "there are no approved treatments." That moment changed my life. The CYFIP2 Network was born from that urgency.

About CYFIP2-DEE disorders:

CYFIP2 Developmental and Epileptic Encephalopathy (CYFIP2-DEE) is a severe, ultra-rare genetic epilepsy caused by pathogenic variants in the CYFIP2 gene (Cytoplasmic FMR1-Interacting Protein 2). The condition was first described in 2018, when de novo variants, particularly at the Arg87 amino acid position (including Arg87Cys, Arg87Leu, and Arg87Pro), were identified in children with early-onset epileptic encephalopathy.

CYFIP2 plays a critical role in synaptic development, actin cytoskeleton regulation, and excitatory signaling in the brain. Disease-causing variants disrupt neuronal stability and increase seizure susceptibility. CYFIP2-DEE usually presents in infancy, often within the first months of life. Seizures are frequently refractory to medication and may include infantile spasms.

CYFIP2-DEE is considered ultra-rare. Fewer than 100 individuals have been identified worldwide to date. Most cases arise de novo.

There are currently no targeted therapies approved specifically for CYFIP2-DEE. Treatment focuses on seizure management, developmental therapies, and supportive care. Research efforts are underway to better understand disease mechanisms and explore precision medicine approaches, including gene-targeted strategies.

Our Journey

Children with CYFIP2-DEE typically experience early-onset, treatment-resistant seizures that can be frequent and severe. Seizure types may evolve over time and often require multiple anti-seizure medications. Despite aggressive management, many children continue to have breakthrough seizures.

Beyond epilepsy, CYFIP2-DEE significantly impacts neurodevelopment. Most individuals have global developmental delay and intellectual disability. Many are nonverbal or minimally verbal. Hypotonia in infancy may progress to movement disorders. Feeding difficulties, reflux, and aspiration risk are common, sometimes requiring feeding tube support.

Additional comorbidities can include cortical visual impairment or other issues with vision, sleepdisturbances, behavioral differences, and gastrointestinal issues. Frequent medical appointments,hospitalizations, and therapy sessions are part of daily life for many families.

The lived experience is marked by uncertainty. Parents often describe a long medical journey beforereceiving genetic answers. After diagnosis, families face the reality that there are no disease-specifictreatments and limited natural history data. Because the condition is so rare, many clinicians have never encountered another case.

At the same time, families form strong bonds within our community. Shared experiences such as first smiles, adaptive milestones, seizure victories, and advocacy efforts create a network of resilience. While the challenges are profound, so is the love, determination, and hope that drives our community forward.

Our Misson

The CYFIP2 Network is a parent-led nonprofit organization dedicated exclusively to families affected by CYFIP2-DEE. The organization was founded by parents seeking answers, connection, and research progress after their child was diagnosed with this ultra-rare condition.

Our mission is to support families through education, connection, and shared resources, fund and advance scientific research toward treatments and cures, and to raise awareness amongst clinicians and researchers. Research is a central focus of our work. We fund and facilitate studies aimed at understanding the disease, developing model systems, and exploring targeted therapeutic strategies. Our community is small but deeply connected. We operate with urgency, transparency, and collaboration.

I am Especially Proud of...

By organizing our community, we are building the foundation necessary for clinical trial readiness and therapeutic development. We are proud of the resources we have built so far and the research that is in progress because of these efforts. Seeing scientists engage with CYFIP2 because families refused to accept “nothing can be done” has been deeply meaningful. But our pride is not just in the research, it is in the resilience of our families.

Excited for REN Because...

We believe the Rare Epilepsy Network (REN) can play a transformative role for CYFIP2 families by fostering collaboration across rare epilepsies. Cross-collaboration accelerates learning. We also see value in shared educational programming for clinicians and researchers. Collaborative scientific convenings could spark insights that benefit multiple communities simultaneously. For families, REN offers community beyond diagnosis. Connecting with other rare epilepsy groups reduces isolation and strengthens advocacy capacity.

Connect With Us

If you are interested in connecting with the CYFIP2 Network, we invite you to contact us at support@cyfip2network.org or visit us at www.cyfip2network.org.

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By Michelle Woznica, CYFIP2 Network Founder