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Machine Learning Resolves Functional Phenotypes and Therapeutic Responses in KCNQ2 Developmental Epileptic Encephalopathy iPSC Models

2025-07-31

Abstract excerpt

Pathogenic KCNQ2 variants are associated with developmental and epileptic encephalopathy (KCNQ2-DEE), a devastating disorder characterized by neonatal-onset seizures and impaired neurodevelopment with no effective treatments. KCNQ2 encodes the voltage-gated potassium channel K V 7.2, which regulates action potential threshold and repolarization. However, the relationship between K V 7.2 dysfunction and abnormal...

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Literature Corpus work
49b3dce3-ae45-5641-ad5c-fbb3cae7b750
DOI
10.1101/2025.07.26.666977
Open publication

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Machine Learning Resolves Functional Phenotypes and Therapeutic Responses in KCNQ2 Developmental Epileptic Encephalopathy iPSC ModelsDOI 10.1101/2025.07.26.666977
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