Infantile spasms

Common ABCB1 polymorphisms associated with susceptibility to infantile spasms in the Chinese Han population

L. Dong, Mao, M., Luo, R., Tong, Y., and Yu, D., Common ABCB1 polymorphisms associated with susceptibility to infantile spasms in the Chinese Han population, vol. 10, pp. 2569-2577, 2011.

Infantile spasms are a severe epileptic encephalopathy with a variety of etiologies that occur in infancy and early childhood. Subjects with infantile spasms are at a higher risk for evolving into intractable epileptic spasms, tending to be refractory to conventional antiepileptic drugs. Genetic polymorphisms of the P-glycoprotein-encoding gene ABCB1 are suspected to be associated with pharmacoresistance phenotypes in epilepsy patients.

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