Synonyms: CDFE syndrome | CDFES | CNTNAP2-related DEE | Cortical dysplasia-focal epilepsy syndrome
A rare genetic syndromic neurodevelopmental disorder characterized by moderate to mostly severe intellectual disability speech impairment with normal or mildly delayed motor development and early-onset seizures often accompanied by developmental regression. Autistic behavior and stereotypic movements are common.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2026
Newly diagnosed with
CNTNAP2-related developmental and epileptic encephalopathy?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Genetic Epilepsy Team Australia
Collaboration of research and care
Rare Epilepsy Network (REN)
Improving outcomes of people with rare epilepsies through an innovative collaborative infrastructure that drives urgent, patient-centered research, educaiton and advocacy.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.