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 an ultra-rare, infant-onset seizure disorder caused by mutations in the KCNT1 gene. Some cases lead to severe, early-onset, intractable (unresponsive to medications) seizures and encephalopathy (widespread injury of the brain that leads to altered structure and function).
No parenting handbook can prepare you for this journey.
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The other main form of KCNT1-related seizures leads to frontal lobe epilepsy with psychiatric symptoms referred to as Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE) or Sleep-related Hypermotor Epilepsy (SHE). These children typically begin having seizures before adolescence, but later than children who have kcnt1-related epileptic encephalopathy.
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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
For more information see our section, About KCNT1
PHENOTYPES
There are two main categories or phenotypes of KCNT1-related
epilepsy, each with different symptoms and progression:
Other less common seizure phenotypes are also associated with KCNT1.
EARLY ONSET
Early onset seizures can cause Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) also called Migrating Focal Seizures of Infancy (MFSI), or can cause an Early Infantile Epileptic Encephalopathy (EIEE)
LATER ONSET
Frontal Lobe Epilepsy, also known as Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE) or Sleep Related Hypermotor Epilepsy (SHE).
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For more information see our resources at the buttons below.
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.
JOIN OUR COMMUNITY
No parent is prepared to hear that their child has an incurable genetic disease.
The KCNT1 Foundation is committed to helping parents in the KCNT1 community and connecting with researchers, clinicians and drug developers who are actively working on treatments for KCNT1 related epilepsy. Join our effort to build a community and the databases necessary to understand KCNT1-related epilepsy. The data that parents in our community share is critical to helping find a cure.
Please enroll in our KCNT1 patient registry, and join our Facebook groups.
