Management of epilepsy in tuberous sclerosis complex.

Abstract	Tuberous sclerosis complex (TSC) is an inherited disorder resulting from mutations in one of two genes, TSC1 (Hamartin) and TSC2 (Tuberin). These two proteins form a cytosolic complex that inhibits the mTOR pathway that controls cell growth and proliferation. Pathologically, abnormalities of neuronal migration, cellular differentiation and excessive cellular proliferation all contribute to the formation of the different brain lesions of TSC. Seizure is the most common presenting symptom. Seizures can be present in the first year of life and up to one third of children develop infantile spasms. Seizures usually have a focal or multifocal origin, are often resistant to antiepileptic drugs and have a negative impact on the neurocognitive development. Vigabatrin has proved to be effective against infantile spasms due to TSC. New evidence suggests that it is possible to noninvasively identify using multimodality techniques, TSC children who are likely to become seizure-free following surgical treatment. Understanding the mechanisms of epileptogenesis and the possible role of the mTOR pathway in this process might increase the availability of novel and targeted therapies.
Authors	P Curatolo, L D'Argenzio, C Cerminara, R Bombardieri
Journal	Expert review of neurotherapeutics (Expert Rev Neurother) Vol. 8 Issue 3 Pg. 457-67 (Mar 2008) ISSN: 1744-8360 [Electronic] England
PMID	18345974 (Publication Type: Journal Article)
Chemical References	Anticonvulsants TSC1 protein, human TSC2 protein, human Tuberous Sclerosis Complex 1 Protein Tuberous Sclerosis Complex 2 Protein Tumor Suppressor Proteins Protein Kinases MTOR protein, human TOR Serine-Threonine Kinases Vigabatrin
Topics	Anticonvulsants (therapeutic use) Child Drug Resistance Epilepsy (etiology, therapy) Gene Expression Humans Infant Prognosis Protein Kinases (genetics) Psychosurgery Spasms, Infantile (etiology, therapy) TOR Serine-Threonine Kinases Tuberous Sclerosis (complications, drug therapy, genetics) Tuberous Sclerosis Complex 1 Protein Tuberous Sclerosis Complex 2 Protein Tumor Suppressor Proteins (genetics) Vigabatrin (therapeutic use)

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