Caring for Patients With KCNT1-Related Epilepsy
KCNT1-related epilepsy presents unique clinical challenges, including early onset, treatment resistance, and significant medical complexity. We work alongside clinicians to advance understanding, improve care, and prepare for emerging targeted therapies in KCNT1-related epilepsy. This page provides educational tools and opportunities for collaboration across clinical care and research.
The KCNT1 Epilepsy Foundation is working with a Clinical Advisory Board (CAB) to define clinical guidelines and preparing for clinical trials in 2026. We invite healthcare providers to join us in this critical mission.
Empowering Clinicians. Advancing Care.
For children with KCNT1, parents and caregivers are the most reliable source of clinical information.
Understanding KCNT1 Epilepsy
KCNT1-related epilepsies span a broad clinical spectrum, from early-onset developmental and epileptic encephalopathies (DEE), including epilepsy of infancy with migrating focal seizures (EIMFS), to later-onset sleep-related hypermotor epilepsy (SHE). Learn more about KCNT1 epilepsy subtypes.
Across phenotypes, common clinical themes include:
- frequent pharmacoresistance and polytherapy
- evolving seizure types over time
- significant caregiver involvement in longitudinal monitoring
- non-seizure contributors to acute presentations, including autonomic features, respiratory events, gastrointestinal symptoms, and unexplained distress
Caregiver-reported baseline function and change are often essential to clinical decision-making, particularly in acute or transitional care settings.
Connecting Families to Support
Clinicians are often the first point of contact for newly diagnosed families. Early connection to condition-specific resources can significantly improve caregiver understanding and support.
Families who connect with the KCNT1 Epilepsy Foundation gain access to:
-updates on research and clinical trials
-educational materials
-peer and community support
Connect families to the Foundation.
Downloadable Clinical Resources
- KCNT1 Treatment Landscape & Clinical Decision Context
In-depth educational overview for clinicians seeking additional context on treatment considerations, longitudinal care, and emerging therapies. Download. - KCNT1 Acute Care Summary
A one-page educational summary designed for emergency and inpatient teams, highlighting baseline importance and commonly missed complications. Download
These materials are educational and do not replace clinical judgment or institutional protocols.
Clinical Trials Are Coming
Identifying Eligible Patients
The KCNT1 Epilepsy Foundation is preparing for clinical trials of targeted therapies in 2026. We invite healthcare providers to play a pivotal role in identifying eligible patients, supporting families, and accelerating treatment development. Opt-in to our mailing list and check out our trials page.
Supporting Families
Your expertise and guidance are essential in helping families navigate the clinical trial process and understand potential treatment options.
Connect Families to Resources
Connect Families to Us
Introduce your KCNT1 patients to the Foundation. When families complete our Family Contact List, they gain access to personalized support, expert guidance, and an online community tailored to their needs.
Join Our Clinician Directory
Be part of a growing network of specialists committed to KCNT1 epilepsy care. Help families find expert guidance near them and collaborate with peers nationwide. Share your info.
Help Shape the Future of Treatment
Join our working group to help develop medical guidelines that define standards of care. Your clinical experience matters. Email us.
Advance Research & Data
Patient Registry
The Foundation partners with NORD’s I Am Rare platform and Citizen Health to support a patient registry designed to advance natural history understanding and trial readiness.
Collaborations
We collaborate with academic partners, including Children’s Hospital of Philadelphia, to analyze de-identified clinical, EEG, and real-world data.
Biobank and Research Requests
Researchers may request access to biospecimens and data resources to support KCNT1-related studies.
Scientific Exchange and Collaboration
Join the Conversation
Join our Scientific Roundtable Meetings—a forum to exchange knowledge, share findings, and collaborate on next-gen solutions. Recordings from past Roundtables are available on our YouTube channel.
Share Your Expertise
Present your clinical experiences and research findings to colleagues specializing in KCNT1-related epilepsy. Join our Clinical Advisory Board or a working group.
Collaborate on Solutions
Work together with other specialists to develop innovative approaches to diagnosis and treatment.
Clinical Updates
Receive the latest information about KCNT1 epilepsy research and treatment developments.
Community Events
Join virtual and in-person gatherings with other healthcare professionals and families.
Research Opportunities
Learn about new studies and ways to participate in advancing KCNT1 epilepsy research.
Educational Resources
Access new materials to enhance your knowledge and improve patient care.
Learn & Share
Subscribe to our YouTube channel for expert content and family stories. Explore our Symptoms & Treatments page for the latest in KCNT1 care insights.
Together, let’s advance precision care and deliver hope to every family affected by KCNT1.
The KCNT1 Epilepsy Foundation provides educational resources and facilitates research collaboration. We do not provide medical advice or clinical care.
