https://www.selleckchem.com/products/OSI-906.html
Pediatric epilepsy caused by KCNQ2 mutations can manifest benign familial neonatal convulsions (BFNC) to neonatal-onset epileptic encephalopathy (EE). Patients might manifest mild to profound neurodevelopmental disabilities. We analysed c.853C A (P285T) and three mutations that cause KCNQ2 protein changes in the 247 position c.740C T (S247L), c.740C A (S247X), and c.740C G (S247W). S247L, S247W, and P285T cause neonatal-onset EE and poor neurodevelopmental outcomes; S247X cause BFNC and normal outcome. We investigate
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