KCNT1 Epilepsy Resource Guide
KCNT1-related epilepsy affects approximately 1 in 900,000 children, causing severe treatment-resistant seizures that often begin before age 6 months. KCNT1 gene mutations create gain-of-function effects that amplify potassium currents up to 22-fold above normal, triggering relentless seizures—often 40-100+ daily. With nearly 100% of cases arising from spontaneous genetic changes, families face a rare disease journey requiring specialized support, technologies, and emerging precision therapies.
The treatment landscape is evolving rapidly. While conventional anti-seizure medications provide benefit to only 5-25% of patients, the ketogenic diet achieves 62.5% response rates. More significantly, antisense oligonucleotide therapy demonstrated near-complete seizure suppression in preclinical models, with multiple companies advancing toward clinical trials in 2025-2026.
10 Organizations Supporting KCNT1 Families
1. KCNT1 Epilepsy Foundation
Website: https://kcnt1epilepsy.org/
What They Offer:
Patient Research Registry with 100+ enrolled patients
Family Contact List connecting newly diagnosed families with experienced parents
Biorepository storing patient samples for researchers
Natural history studies tracking disease progression
Treatment guidelines and symptom tracking resources
Clinical trial notifications
Contact: support@kcnt1epilepsy.org or info@kcnt1epilepsy.org
Why It Matters: This parent-run organization serves as the central hub for the global KCNT1 community. Registry enrollment is critical—it's the primary mechanism for researchers to contact families when clinical trials become available. They co-funded research including a $100,000 partnership with CURE Epilepsy and held a Patient-led FDA Listening Session in April 2024.
2. Epilepsy Foundation
Website: https://www.epilepsy.com/
What They Offer:
Toll-free helpline: 800-332-4050
Seizure tracking apps
Local affiliates in approximately 100 communities nationwide
Employment assistance programs
Educational materials for families and schools
Why It Matters: Provides comprehensive epilepsy resources through their national network, including financial assistance programs and connections to specialized care centers.
3. CURE Epilepsy
Website: https://www.cureepilepsy.org/
What They Offer:
Research funding for rare epilepsy studies
Grant partnerships with patient organizations
Educational webinars on latest research
Research updates and newsletters
Why It Matters: Co-funded KCNT1-specific research including "Target Optimization in Precision Treatment of KCNT1-Related Epilepsy" through their Rare Epilepsy Partnership Award program.
4. Rare Epilepsy Network
Website: https://www.rareepilepsynetwork.org/
What They Offer:
Connections across 150+ member organizations
Monthly Rare Epilepsy RoundUp Newsletter
(Not So Rare) Epilepsies ECHO educational sessions
Interactive patient data dashboard covering 40+ rare epilepsy disorders
Why It Matters: Creates a collaborative network sharing resources and data across rare epilepsy communities, amplifying patient voices and accelerating research.
5. DEE-P Connections
Website: https://deepconnections.net/
What They Offer:
Resources from 8+ founding Developmental and Epileptic Encephalopathy organizations
Webinars on palliative care, equipment needs, and medication management
Support for severe epileptic encephalopathies including KCNT1
Why It Matters: Specifically addresses the severe DEE spectrum where KCNT1 falls, providing specialized resources for families facing the most challenging epilepsies.
6. Child Neurology Foundation
Website: https://www.childneurologyfoundation.org/disorder/kcnt-1-related-epilepsies/
What They Offer:
Detailed KCNT1 disorder page with accessible medical information
Caregiver respite notebook tools
Direct connections to KCNT1 Epilepsy Foundation for registry enrollment
Educational materials for families and healthcare providers
7. National Organization for Rare Disorders (NORD)
Website: https://rarediseases.org/
What They Offer:
Information on 7,000+ rare diseases affecting 30+ million Americans
Phone helpline: 203-744-0100 or 800-999-6673
Patient assistance programs
Network of Rare Disease Centers of Excellence
Multilingual support including Spanish translations
Why It Matters: Serves as the primary rare disease infrastructure organization, connecting families to disease-specific organizations and providing capacity building support.
8. COMBINEDBrain
Website: https://combinedbrain.org/
What They Offer:
Biorepository with 900+ individuals across 110+ rare neurological disorders
COMBINEDBrain Roadshow bringing sample collection directly to families at conferences
Natural history studies coordination
Drug discovery collaborations with pharmaceutical companies
Contact: Dr. Terry Jo Bichell at terryjobichell@combinedbrain.org
Why It Matters: Operates the KCNT1 Epilepsy Foundation's biorepository, removing geographic barriers to research participation and facilitating therapeutic development.
9. Global Genes
Website: https://globalgenes.org/
What They Offer:
Patient community building platforms
Connections to researchers, clinicians, and industry partners
Data sharing infrastructure
Advocacy training for patient organizations
Why It Matters: The KCNT1 Epilepsy Foundation serves as a partner organization, benefiting from Global Genes' infrastructure and advocacy resources.
10. Genetic Alliance
What They Offer:
Secure Patient Research Registry platform for KCNT1 Epilepsy Foundation
Digital health tools for families
Research participation from home through surveys
Why It Matters: Powers the technology infrastructure enabling families to contribute to KCNT1 research without leaving home, building the data foundation needed for clinical trials.
15 Assistive Technologies Improving Quality of Life for KCNT1 Patients
Seizure Detection Systems
1. Empatica EpiMonitor
Website: https://www.empatica.com/epimonitor/
What It Does:
FDA-cleared wrist-worn wearable detecting generalized tonic-clonic seizures lasting 20+ seconds
Uses electrodermal activity sensors, accelerometers, gyroscope, and temperature sensors
AI algorithm achieves 98% detection accuracy
Sends instant alerts via phone call and text message
Tracks sleep, activity, and maintains seizure diary
Shares location in alerts
Key Details:
Approved for ages 6 and up
Requires prescription in US
Subscription model ($10/month option available)
FDA clearance: K181861 (January 2018)
2. Brain Sentinel SPEAC System
What It Does:
Surface electromyography (sEMG) monitoring worn on biceps muscle
Records 1,000 sEMG samples per second
Detects motor cortex activity associated with generalized tonic-clonic seizures
100% sensitivity in phase III trials (detected all 24 GTC seizures)
Alarms within average 5.3 seconds of seizure onset
Exceptionally low false alarm rate (0.007 per 24 hours)
Key Details:
FDA De Novo cleared (DEN140033, February 2017)
First non-EEG physiological signal-based seizure monitor
Currently available primarily through Veterans Administration hospitals
3. SmartWatch Inspyre
Website: https://smart-monitor.com/
What It Does:
App transforming consumer smartwatches into seizure detectors
Works with Apple Watch 3+ or Android WearOS devices
Detects repetitive shaking motion indicative of convulsive seizures
Sends text and phone call alerts with GPS location, date, time, duration
Manual SOS button and heart rate recording
Key Details:
Validated at Stanford University (2010-2011)
100% sensitivity, over 90% specificity
Subscription-based ($10-50/month)
Used in children as young as 3 years old
Not FDA-approved but academically validated
4. EpiWatch
Website: https://epiwatch.com
What It Does:
FDA 510(k) cleared seizure detection platform for Apple Watch
Continuously monitors for tonic-clonic seizures
Medication reminders
Trigger tracking and mental health screening
Integrated seizure logging
Key Details:
Developed by Johns Hopkins Medicine
FDA clearance achieved in 2025
5. Emfit Movement Monitor
Website: https://www.epiusa.net/ and https://emfit.com/
What It Does:
Ultra-thin sensor sliding under mattress (no wearables required)
Detects movement as subtle as heartbeat
Battery-powered bedside control unit triggers audible alarm
Adjustable threshold (10-20 seconds)
Key Details:
69.6% sensitivity in adult epilepsy monitoring studies
0.007 false alarms per 24 hours
Used in 60+ countries
Cost: $400-600
10% discount code: DANNYDID
Danny Did Foundation may provide financial assistance
6. SAMi Sleep Activity Monitor
Website: https://www.samialert.com/
What It Does:
Infrared camera with AI analyzing video for seizure-like patterns
Works in complete darkness
Automatically records unusual movements
Sounds alarms and displays live video/audio
Stores timestamped events on SD card with 256-bit encryption
Configurable sensitivity (as subtle as 15+ seconds)
Key Details:
Created by parents of child with epilepsy
Cost: $200-400 (camera) or $500-700 (kit with iPad)
Not FDA-approved
Danny Did Foundation has helped 700+ patients secure devices
Medical Monitoring Equipment
7. BioSerenity Neuronaute EEG System with IceCap
What It Does:
Remote EEG monitoring with full 10-20 montage
Live data visualization
Extended 8-hour battery life
Cloud-based data transmission
Live notifications of specific events
Key Details:
FDA 510(k) cleared
Eliminates repeated hospital visits for EEG monitoring
8. Owlet BabySat
What It Does:
Measures SpO2, pulse rate, and motion through sensor in fabric sock
Base station and caregiver phone app alarm for critical hypoxia
Monitors abnormal pulse rates
Key Details:
FDA-cleared prescription device
Ages 1-18 months
Valuable for respiratory complications during seizures
Communication Aids for Non-Verbal Patients
9. Tobii Dynavox I-Series
Website: https://us.tobiidynavox.com/
What It Does:
Purpose-built Speech Generating Devices with eye-tracking technology
Available in 11-inch (I-13) and 13-inch (I-16) sizes
Eye gaze and touch access
Switch scanning and mouse/keyboard compatibility
Environmental controls
Superior sound quality in durable packages
Key Details:
FDA Class II durable medical equipment
Cost: $5,000-15,000
Often covered by insurance or Medicaid as DME
Caution for photosensitive epilepsy patients
10. Tobii Dynavox TD Pilot
Website: https://us.tobiidynavox.com/products/td-pilot
What It Does:
Adapts 12.9-inch iPad into eye gaze-enabled SGD
Pre-loaded with AAC apps (TD Talk or TD Snap)
Partner Window for face-to-face conversations
Outdoor-use capability
Key Details:
Funding available through insurance and AAC services
11. Proloquo2Go
What It Does:
Symbol-based and text-based communication for iPad/iPhone
Multilingual support including Spanish
Customizable vocabulary
Natural-sounding voices
Key Details:
Cost: $200-300
Often discounted 50% during April and October
No insurance approval required
12. Programmable AAC Devices
What They Do:
2-14 programmable buttons for recording custom messages
Simple interface for basic communication needs
Key Details:
Cost: $30-150
Available on Amazon (LoveHugs, Joyreal, Special Supplies brands)
13. Gus Communication Devices
Website: https://usaspeechtablets.com/
What They Do:
Complete tablet-based AAC systems
America's first wearable AAC device (SpeechWatch) announced for 2025
Key Details:
Cost: $500-1,500
Safety Equipment
14. Guardian Helmets
Website: https://guardianhelmets.com/
What It Does:
Smart molecule technology locks on impact to absorb energy
Protects from head injuries during seizures, falls, head-banging
Lycra outer shell for breathability
Adjustable hook-and-loop chinstrap with back lacing
Machine washable
Full head coverage with enhanced ear protection
100% peripheral vision
Key Details:
FDA-registered soft-shell medical-grade helmet
Cost: $300-400
Four color options
15. Ribcap Helmets
Website: https://ribcap.com/
What They Do:
Medical protection disguised as everyday fashion
Baseball caps, beanies, and bucket hats
Hidden viscoelastic safety protectors in cotton or wool fabric
Key Details:
Medical device certified in Europe
Cost: $150-200
Multiple styles and colors
Reduces social stigma
Clinical Trials for KCNT1 Disorders: Current Landscape
The Reality About KCNT1-Specific Trials
After comprehensive searches of ClinicalTrials.gov, EU Clinical Trials Register, and WHO International Clinical Trials Registry Platform, there are currently NO clinical trials specifically designed for KCNT1-related epilepsy registered globally.
However: According to the KCNT1 Epilepsy Foundation, KCNT1-specific trials are expected to begin in late 2025 or 2026. Approximately 15+ companies and academic laboratories are working on KCNT1-targeted therapies, with three IND (Investigational New Drug) applications expected to be filed with FDA in 2025.
Broad DEE Trials That May Include KCNT1 Patients
1. DEEp OCEAN Study (LP352-301)
Status: Active and recruiting (launched November 2024)
What It Tests: Bexicaserin (LP352), an oral 5-HT2C receptor superagonist
Who Can Participate:
Ages 2-65 with Developmental and Epileptic Encephalopathies
Lennox-Gastaut Syndrome patients
DEE Other category (may include KCNT1 patients)
Study Details:
Phase 3 placebo-controlled trial
Target: ~320 participants across ~80 global sites
5-week screening, 3-week dose titration, 12-week maintenance
52-week open-label extension available
Expected completion: 2026-2027
Key Information:
Sponsored by Longboard Pharmaceuticals (acquired by H. Lundbeck A/S)
FDA Breakthrough Therapy Designation received July 2024
NCT number pending registration
2. PACIFIC OLE Study (NCT05626634)
Status: Active and recruiting
Website: https://clinicaltrials.gov/study/NCT05626634
What It Tests: Bexicaserin 52-week extended safety and efficacy
Who Can Participate:
Ages 12-65
Completed initial PACIFIC Study
Dravet syndrome, Lennox-Gastaut syndrome, or DEE Other
Study Details:
Phase 2 open-label extension
34 US and Australian sites
DEE Other group (n=18) potentially includes KCNT1 patients
Interim data showed median 57.7% reduction in seizures
Estimated completion: October 2024
3. DEEp OLE Study (NCT06908226)
Status: Active
Website: https://clinicaltrials.gov/study/NCT06908226
What It Tests: 52-week open-label extension for DEEp SEA or DEEp OCEAN completers
Who Can Participate:
Ages 2-65
Completed DEEp SEA or DEEp OCEAN studies
Study Details:
Multiple global sites
Running through December 2027
4. DEEp SEA Study (LP352-302)
Status: Active (initiated September 2024)
What It Tests: Bexicaserin specifically for Dravet syndrome
Study Details:
Phase 3 global trial
~80 sites
Target: ~160 participants ages 2-65
Not directly relevant to KCNT1 unless dual diagnosis exists
Completed Trial That Shaped Clinical Practice
Quinidine RCT (ATGR 2015/0151)
Published: Neurology, January 2018
What It Tested: Oral quinidine at 300mg, 600mg, or 900mg daily
Who Participated: 6 patients with severe ADNFLE due to KCNT1 mutations
Results:
QT prolongation in 2 patients at subtherapeutic doses
No significant seizure frequency reduction
Class II evidence: quinidine does NOT reduce seizures in KCNT1-ADNFLE
Impact: Established quinidine's ineffectiveness for ADNFLE phenotype, though retrospective data shows some benefit in EIMFS patients with specific mutations
How to Access Future Trials
1. Enroll in the KCNT1 Epilepsy Foundation Patient Registry
Website: https://kcnt1epilepsy.org/
Email: info@kcnt1epilepsy.org
This is the PRIMARY mechanism for trial notifications
2. Discuss DEEp OCEAN Eligibility with Your Neurologist
KCNT1 patients may qualify under "DEE Other" category
Confirm genetic diagnosis is documented
3. Consider Geographic Location
Most trials operate at specialized epilepsy centers
Willingness to travel increases trial access
4. Prepare Documentation
Reliable seizure diaries
Genetic confirmation of pathogenic KCNT1 variant
Complete medical records
Caregiver availability for frequent assessments
How Nome Can Help KCNT1 Families: Personalized ASO Therapy Development
The Game-Changing Opportunity for KCNT1 Patients
KCNT1-related epilepsy is exactly the type of rare genetic condition where Nome's personalized antisense oligonucleotide platform excels. With preclinical studies demonstrating near-complete seizure suppression using ASO therapy in KCNT1 mouse models, and the first human channelopathy ASO case achieving 60% seizure reduction in a related sodium channel disorder, the scientific foundation for KCNT1 ASO therapy is robust.
What Makes KCNT1 Ideal for Nome's Platform
Genetic Clarity: KCNT1 mutations are definitively identified through genetic testing, with nearly 100% detection rate for pathogenic variants. Diagnosis is straightforward—no ambiguity about the molecular cause.
Gain-of-Function Mechanism: KCNT1 mutations create excessive channel activity. Reducing KCNT1 expression addresses the root molecular defect rather than just suppressing symptoms downstream.
Wide Therapeutic Window: Complete KCNT1 knockout is well-tolerated—mice lacking all KCNT1 expression are healthy with normal lifespans and no seizures. This means Nome can reduce KCNT1 expression by 50-90% without safety concerns.
Mutation Independence: Nome's ASO approach works regardless of which specific KCNT1 variant a patient carries. The strategy reduces overall expression rather than correcting individual mutations, so one therapeutic approach addresses all KCNT1 patients.
Urgent Unmet Need: With conventional medications providing benefit to only 5-25% of patients, mortality reaching 33% by median age 2.5 years, and no FDA-approved therapies, families desperately need alternatives.
Nome's Five-Step Process for KCNT1 ASO Development
Step 1: Free Intake & Eligibility Assessment
What Happens:
Family shares genetic testing confirming pathogenic KCNT1 variant
Nome analyzes the case and medical records
Nome discusses whether custom ASO therapy is appropriate
Nome's AI product processes "intake chaos" (records, tests, notes) into development-ready plan
Consistent, data-driven eligibility logic determines if ASO is right fit
For KCNT1: Diagnosis is typically straightforward with genetic testing. Most KCNT1 patients will be excellent candidates given the gain-of-function mechanism and safety profile.
Timeline: Initial consultation and eligibility determination
Cost: Free
Step 2: 30-Day Therapeutic Plan Development
What Happens:
Nome assembles comprehensive development roadmap within ~30 days
Plan includes core workstreams:
Molecule template design (ASO sequence targeting KCNT1 mRNA)
Target identification and validation
Safety and toxicology assessment
CMC (chemistry, manufacturing, and controls) pathway
Program economics and cost projections
For KCNT1: Nome leverages existing preclinical data showing ASO efficacy in KCNT1 models. The therapeutic approach is validated—Nome focuses on optimizing for the individual patient's specific variant and developing the manufacturing pathway.
Timeline: ~30 days for comprehensive plan
Cost: After free report, ongoing plan development runs on transparent monthly fee with milestone-based pricing
Step 3: Partner Orchestration & Pre-Clinical Work
What Happens:
Nome connects families to "world-class partners who are right for your treatment"
Coordinates pre-clinical safety testing across vendors
Manages execution: orders, referrals, vendor matching
Moves plan from triage to action
For KCNT1: This includes ASO synthesis and purification, in vitro testing confirming KCNT1 knockdown efficiency, animal safety studies (toxicology, biodistribution), and preparation of IND-enabling packages.
Nome's Role: Project management ensuring work progresses on timeline without families needing to coordinate between multiple vendors
Timeline: Varies based on regulatory requirements, typically 6-18 months
Cost: Transparent milestone-based pricing
Step 4: Approvals & Safety Oversight
What Happens:
Rigorous lab safety testing before first dose
FDA permission via IND (Investigational New Drug) application
Clinical monitoring protocols established
Nome sets expectations and supports process with care team
For KCNT1: Given the precedent of Spinraza approval for spinal muscular atrophy and FDA guidance for individualized ASO development, regulatory pathway exists. Safety monitoring includes hydrocephalus surveillance based on lessons from N-of-1 cases.
Timeline: IND preparation typically 3-6 months; FDA review 30 days
Cost: Included in program development costs
Step 5: Delivery to Patients & Ongoing Management
What Happens:
Intrathecal administration via lumbar puncture
Clinical monitoring for efficacy (seizure frequency, EEG, development)
Safety surveillance (inflammation, hydrocephalus, liver/kidney function)
Potential re-dosing every few months based on response
Nome manages the entire process at every stage
For KCNT1: Based on mouse model data, families could potentially see seizure reduction within weeks to months. The extended CNS half-life of ASOs means dosing occurs every few months rather than daily. Nome coordinates with family's epileptology team for seizure monitoring and outcome assessment.
Timeline: Initial dose after IND approval; ongoing monitoring and re-dosing as needed
Cost: Transparent pricing for manufacturing, administration, and monitoring
Why Nome vs. Waiting for Clinical Trials
Speed: Nome can initiate development immediately rather than waiting 1-3 years for KCNT1-specific trials to launch and enroll.
Access: Clinical trials have narrow eligibility criteria (age ranges, seizure frequency thresholds, prior medication requirements). Nome's N-of-1 approach is available regardless of whether a patient qualifies for trials.
Personalization: Nome develops therapy specifically for your child's KCNT1 variant, optimizing the ASO sequence for maximum efficacy.
No Placebo: Clinical trials randomize patients to placebo groups. With Nome, your child receives active treatment immediately.
Geographic Flexibility: Trials operate at limited specialized centers. Nome coordinates delivery closer to home through partnerships with local medical teams.
Cost Control: Nome uses automation and partnerships to compress timelines and reduce total costs relative to typical ASO development (>$1M). Transparent milestone-based pricing eliminates surprises.
The Evidence Supporting KCNT1 ASO Therapy
Landmark 2022 Study (JCI Insight):
Single ASO injection nearly completely abolished seizures
Survival extended from 43 days to 209-300+ days in mice that would otherwise die young
KCNT1 mRNA knockdown of 25-90% all showed benefit
Even 90%+ knockdown well-tolerated with no safety concerns
Neonatal treatment prevented disease onset entirely
Validation in Related Disorders:
SCN2A channelopathy responded to ASO therapy in first human case (60% seizure reduction)
SCN8A epilepsy showed survival improvement from 15→65 days with ASO treatment
Spinraza transformed spinal muscular atrophy from fatal to treatable
Scientific Rationale:
KCNT1 haploinsufficiency is safe (mice without KCNT1 are healthy)
Gain-of-function mechanism means reducing expression treats root cause
Works across all KCNT1 mutations (mutation-independent approach)
Broad CNS distribution via intrathecal delivery
Extended half-life allows infrequent dosing
Next Steps for KCNT1 Families Interested in Nome
1. Contact Nome for Free Eligibility Assessment
Share genetic testing confirming KCNT1 pathogenic variant
Provide medical records documenting seizure history
Discuss goals and expectations
2. Review the 30-Day Therapeutic Plan
Understand exactly what workstreams are needed
Review timeline projections
Discuss costs with transparent pricing
3. Decide Whether to Proceed
Weigh personalized ASO development vs. waiting for clinical trials
Consider child's current seizure burden and quality of life
Evaluate family's resources and priorities
4. Trust Nome to Manage the Journey
Nome coordinates every aspect: vendor partnerships, safety testing, regulatory submissions, manufacturing, delivery
Families "manage Nome" while Nome manages the execution
Regular communication ensures transparency
The Bottom Line for KCNT1 Families
KCNT1-related epilepsy represents one of the most scientifically validated targets for antisense oligonucleotide therapy. The preclinical evidence is compelling, the safety profile is favorable, and the unmet medical need is urgent. While families can wait for pharmaceutical companies to complete clinical trials in 2026-2028, Nome offers the opportunity to begin developing personalized ASO therapy now.
For families watching helplessly as seizures steal their child's development despite trying 9+ medications, ketogenic diet, and other interventions, Nome provides a scientifically grounded path forward. The technology is proven. The approach is validated. The question is whether your family wants to access this potential therapy now through personalized development, or wait years for traditional clinical trial results.
Nome was founded by a rare-disease patient and backed by genetics, rare-disease, and drug-development experts specifically to make treatments like KCNT1 ASO therapy accessible to families who cannot wait. The five-step process compresses years into months, using automation and partnerships to deliver what pharmaceutical companies take 10+ years to develop.
For KCNT1 families, the message is clear: precision medicine is not just coming—it's here now, and Nome can help you access it.
