KCNC1 developmental and epileptic encephalopathy
What is KCNC1 developmental and epileptic encephalopathy ?
KCNC1 developemental and epileptic encephalopathy (DEE) is a rare single gene condition caused by disease-causing changes in the KCNC1 gene, excluding the c.959G>A; p.Arg320His variant, which is associated with progressive myoclonic epilepsy type 7. KCNC1 DEE is characterized typically by myoclonic seizures, ataxia, hypotonia (low muscle tone), intellectual disability, and developmental delay. With less 100 known cases worldwide, the features of KCNC1 DEE continue to be discovered as more people are diagnosed. Prognosis, treatment, and variability of the condition are yet to be fully understood.
KCNC1 developemental and epileptic encephalopathy (DEE) is a rare single gene condition caused by disease-causing changes in the KCNC1 gene, excluding the c.959G>A; p.Arg320His variant, which is associated with progressive myoclonic epilepsy type 7. KCNC1 DEE is characterized typically by myoclonic seizures, ataxia, hypotonia (low muscle tone), intellectual disability, and developmental delay. With less 100 known cases worldwide, the features of KCNC1 DEE continue to be discovered as more people are diagnosed. Prognosis, treatment, and variability of the condition are yet to be fully understood.
Unknown
| Name | Description |
|---|---|
| Seizures | Seizures |
| Ataxia | Loss of the ability to coordinate muscle movement |
| (R) Developmental Delays | Development Delays vary |
| Delays in mental and motor development | Delays in mental and motor development |
| Hypotonia | A state of low muscle tone. |
Genetic testing - KCNC1 gene (typically in panels, through whole exome sequencing or whole genome sequencing)
Treatment of symptoms.
unknown
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CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.
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After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.
Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.
Visit sanfordresearch.org/CoRDS to enroll.
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