The Dup15q Alliance is proud to be a partner of the DEE-P initiative (the Developmental and Epileptic Encephalopathies-Project), which is dedicated to serving the distinct needs of families with children most severely affected by DEEs. https://www.deepconnections.net/partner-with-us
Developmental and Epileptic Encephalopathies (DEEs) are defined as a group of rare neurodevelopmental disorders, characterized by early-onset seizures that are often intractable with a developmental delay.
As DEE-P Connections adds more webinars and resources from the many researchers, organizations, doctors, journals, families and carers working independently to help people with DEES, the resources database continues to grow.
Visit the resources center here: https://www.deepconnections.net/resource-center
“The new concept of developmental and epileptic encephalopathy is based on the understanding that many genetic epilepsies are associated with developmental impairment as a direct consequence of the genetic mutation, in addition to the effect of the frequent epileptic activity on brain development. As an example, in infants with KCNQ2 or STXBP1 encephalopathy, seizures may be controlled early after onset or cease spontaneously after a few years, but the developmental consequences tend to remain profound. The term “developmental and epileptic encephalopathy” expresses the concept that the genetic defect may be responsible for both the epilepsy and adverse development which is crucial to understanding the disease process for both families and clinicians.”
— Neonatal Developmental and Epileptic Encephalopathies