Article

The KCNT1-related epilepsy study: design and methods of a fully-decentralized prospective natural history study in a rare disease

2025-11-13

Abstract excerpt

<h4>Objective</h4> KCNT1-related epilepsy is an ultra-rare pediatric onset 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 nocturnal seizures, autism spectrum disorder, and learning disability. We initiated the first-ever prospective natural history study to comprehen...

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Literature Corpus work: f475dfb9-22df-5e57-ac31-d6c3636dc626
DOI: 10.1101/2025.11.11.25340032

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