Synonyms: KCNQ2-NEE | KCNQ2-related neonatal epileptic encephalopathy
KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body) often accompanied by clonic jerking or more complex motor behavior as well as signs of encephalopathy such as diffuse hypotonia limb spasticity lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability.
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 May 2026
Newly diagnosed with
KCNQ2-related epileptic encephalopathy?
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Advocacy Organizations
Access to Life NGO
Our mission is to improve the lives of people affected by genetic epilepsies by empowering patients and families, advancing access to diagnosis and treatment, supporting research, and advocating for equitable, patient-centered care in Ukraine in alignment with global rare disease standards.
Genetic Epilepsy Team Australia
Collaboration of research and care
KCNQ2 Cure Alliance
The mission of the KCNQ2 Cure Alliance is to empower through education, nurture meaningful connections, and drive innovative research to develop treatments or find a cure for individuals affected by KCNQ2-related disorders.
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.
ReNU2 United
ReNU2 United fosters collaboration, supports families, raises awareness, and advances research into RNU2-2-related neurodevelopmental disease.
Uganda Alliance of Patients Organization
Supporting patients to access quality, safe and patient-centered healthcare services.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.