Article

Characterizing the Clinical and Genetic Landscape of <i>KCNT1</i> -Related Disorders

2026-05-27

Abstract excerpt

KCNT1 -related disorders represent clinically heterogeneous severe epilepsies associated with profound neurodevelopmental impairment. The full phenotypic spectrum and longitudinal disease trajectory remain incompletely characterized, which is a critical gap limiting the establishment of quantifiable endpoints necessary for future clinical trials. Compounding this challenge, identical pathogenic variants result in...

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Literature Corpus work: e6b0a6d8-c4ec-5c8e-aed9-60076e4a7f36
DOI: 10.64898/2026.05.25.26354015

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