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KCNT1 is a channel that affects the flow of electricity in the brain and sometimes in the heart. This channel is found throughout the body, and mutations in KCNT1 result in increased electrical flow through the potassium channels. This primarily results in problems in electric electrical activity in the brain, which can cause seizures.

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KCNT1-related epilepsy syndromes


 1) Early onset seizures, either epilepsy of infancy with migrating focal seizures EIMFS, also known as migrating partial seizures of infancy MMPSI. It can cause an epileptic encephalopathy (EE).

 

 2) A later onset form of KCNT1 related epilepsy which is often known as autosomal dominant nocturnal frontal lobe epilepsy ADNFLE, recently renamed as autosomal dominant sleep-related hyper motor epilepsy (SHE).

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Gain-of-function pathogenic variants in the KCNT1 gene have been implicated in a wide spectrum of epileptic disorders. In infancy, these most commonly include EIMFS, Ohtahara syndrome, and infantile spasms.

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SYMPTOMS

  1. SEIZURE BURDEN (SEIZURE COUNT)

  2. FOCAL SEIZURES

  3. SEIZURES THAT OCCUR WHEN FALLING ASLEEP OR SHORTLY THEREAFTER

  4. INFANTILE SPASMS

  5. FEEDING PROBLEMS

  1. ORAL HEALTH AND SECRETIONS

  2. SLOW GASTRIC EMPTYING, CONSTIPATION

  3. CARDIAC ISSUES

  4. LUNGS AND BREATHING ISSUES

  5. TONE, MOTOR CONTROL, SPASTICITY, AND SCOLIOSIS

  1. URINARY TRACT ISSUES AND KIDNEY STONES

  2. BONE HEALTH

  3. CORTICAL VISUAL IMPAIRMENT (CVI)

  4. PAIN

  5. IRRITABILITY (UNCONTROLLABLE CRYING)

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SUPPORTING RESEARCH


Our Research Strategy

Supporting research projects ranging from preclinical and cellular models of our condition to discovery science and the evaluation of the psychological and physiological components is our goal.

Our mission is to assist in the development of safe, efficient treatments for those with KCNT1-related conditions. In addition to considering research and development programming, we aim to collaborate with other Parent Advisory Groups, the government, business, and academia.


Our Research and Development Priorities

  • Identify and develop therapies

  • Understand the etiology of KCNT-related epilepsy

  • Cultivate an open, inclusive, and collaborative research community


How We Advance Research & Development 

  • Targeted Priorities

  • Partnerships

  • Patient Registry

  • Patient Natural History Study

  • Cellular and Animal Models

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