This week's artwork was donated by Amanda, a pediatric cancer patient who received treatment at The Children's Hospital of Philadelphia . Tuberous sclerosis associated with MDR1 gene expression and drug-resistant epilepsy. Genetic variants of the tuberous sclerosis 2 tumour suppressor gene in mouse t haplotypes.
Intractable seizures are the most common manifestation in severe cases of tuberous sclerosis.
The patient was treated with antiepileptic drugs, including phenytoin, phenobarbital, and lorazepam, without improvement of symptoms. Surgical treatment with total resection of the brain lesions was performed as a last resort. Immunohistochemical analysis of the resected tissues revealed high levels of P-glycoprotein 170 expression, the product of the MDR1 gene. Both MDR1 gene expression and persistently low phenytoin levels likely share a common pathway liable to induce drug-resistant epilepsy. The murine t complex on chromosome 17 contains a number of homozygous lethal and semi-lethal mutations that disrupt development of the mouse embryo.