Prospective natural history study targeting clinical phenotypes in individuals with KCNT1-related epilepsy, indicating the disorder's varied manifestations.
KCNT1-related epilepsy is an ultra-rare pediatric-onset developmental and epileptic encephalopathy with a broad clinical phenotype ranging from, most commonly, severe infantile-onset epilepsy and global developmental delay to, less commonly, milder phenotypes including sleep-related seizures, autism spectrum disorder, and learning disability. We initiated the first-ever prospective natural history study to comprehensively clinically phenotype individuals affected by this disorder.
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Adams et al. (2026) studied this question.
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