CYFIP2-related developmental and epileptic encephalopathy (DEE 65) is a rare genetic neurological disorder caused by mutations in the CYFIP2 gene, most commonly the Arg87Cys variant. This gene plays a key role in early brain development and communication between neurons. Children with DEE 65 typically experience early-onset, drug-resistant epilepsy, often experiencing infantile spasms, along with severe developmental delays, low muscle tone (hypotonia), speech impairments, autistic features, feeding difficulties, sleep problems, neutropenia, and microcephaly. The condition is complex and lifelong, but early diagnosis and supportive care can help families better manage symptoms and improve quality of life.

The CYFIP2 gene (Cytoplasmic FMR1 Interacting Protein 2) provides instructions for making a protein that is critical for brain development and function. It helps regulate how neurons grow, connect, and communicate by controlling the structure of the cell’s internal framework and the production of proteins at synapses. CYFIP2 plays a key role in shaping brain circuits during early development, and disruptions in this gene can interfere with normal brain signaling, leading to neurological conditions like developmental and epileptic encephalopathy.

The CYFIP2 Network was established in 2023 as one mother's "behind the scenes" effort to advocate for a treatment for her son. We seek to raise awareness, and support children, families and research of CYFIP2 EIEE. Together, with a few families and scientists, we work to support the development of a treatment. The CYFIP2 Network is a 501c3 nonprofit organization located in the United States with FEIN 93-4821164.