Hope is on the horizon
The mission of the KCNT1 Epilepsy Foundation is to accelerate research and drug development efforts focused on finding a cure for KCNT1-related epilepsy. The KCNT1 Epilepsy Foundation supports the KCNT1 community with educational resources and the latest research information.
What is kcnt1 epilepsy?
KCNT1-related epilepsy is seizure disorder caused by mutations in the KCNT1 gene. Some cases lead to mild impairments, while others lead to severe, early-onset, seizures that don’t respond well to medication that are available today.
We are working with families, clinicians, researchers and drug developers to understand this disease and find new treatments for KCNT1-related epilepsy.
For more information see our section, About KCNT1
More about kcnt1 epilepsy
In many children with a pathogenic mutation in KCNT1, seizures begin in the first days or months of life. Parents may notice a subtle movement of a single hand or foot which may then spread to involve the other side of the body. There may be only a few seizures per day, but many children have 50 or more. Children with KCNT1-related encephalopathic epilepsy typically start missing their normal developmental milestones within months of the seizures beginning, and some never learn to walk or talk.
The other type of KCNT1-related disorder is called Sleep-related Hypermotor Epilepsy (SHE), formally called Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE). In these patients, seizures may occur mainly during sleep or transition into or out of sleep, and may include behavioral symptoms. These children typically begin having seizures before adolescence, but later than children who have KCNTt1-related epileptic encephalopathy.
In those with SHE, seizures can happen during sleep and occur in clusters. They can go unrecognized and can be initially misinterpreted as night terrors. In these children the first sign of a problem can be missed milestones in infancy or early childhood. The diagnosis of KCNT1 related epilepsy is made by genetic testing. Additional testing such as an overnight EEG may be performed.
Other less common health issues can result from KCNT1. Please contact us if you have a pathogenic or likely pathogenic variant and no symptoms, or if you have a Variant of Unknown Significance but you have symptoms. We may be able to put you in touch with a genetic counselor or clinician. info@kcnt1epilepsy.org
SHARING YOUR VOICE
The KCNT1 Foundation is committed to bringing the parent voice to researchers, clinicians and drug developers who are actively working on treatments for KCNT1 related epilepsy. Join our effort to build a community and the studies needed to understand KCNT1-related epilepsy. The data that parents in our community share is critical to helping find a cure.
If you are a parent, please join our Family Network and enroll in our patient studies. If you are are a friend or family member subscribe to our mailing list and follow our Facebook page.
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OUR GOAL
The KCNT1 Epilepsy Foundation aims to support basic science and clinical research as well as drug discovery programs with a goal of finding a cure as soon as possible. We want to ensure that parents have a voice and can assist the research community in understanding how children with KCNT1-related epilepsy progress over time, how it affects families, and what the family priorities are in terms of treatment goals. Our fundraising efforts support selective research and drug development programs in an effort to move us rapidly toward disease-modifying treatments.