Unraveling the molecular and cellular mechanisms of neurological dysfunction in Tuberous Sclerosis Complex
Year: 2012
Type: dissertation
Abstract: Tuberous Sclerosis Complex (TSC) is a multi-organ disorder, which is characterized \nby the development of benign malformations and specific neurological and \npsychiatric symptoms. It was first formally described by the neurologist Bourneville \nin 1880, based on a female patient who presented with epilepsy, skin tags, facial \nrash, and sclerotic areas in some of the cerebral convolutions on pathological \nexamination of the brain. \nTSC is a relatively common genetic syndrome with a birth incidence of 1:60001. \nAlthough all major organs are susceptible to TSC, the most frequently affected \nare the brain, skin, kidneys, heart, lung and eye. None of the manifestations \nassociated with TSC is pathognomonic for the disorder and accordingly, diagnosis \nis made based on the presence of combinations of major and minor disease \nfeatures, as revealed by clinical, radiological and pathological examination.
Author: Susan Goorden
Language: English
Subfield: Genetics (clinical)
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W1560093204