... were found to worsen over time, with faster progression in patients with severe mutations. Subclinical neurological features were observed in XPC, XPE and XPV. DNA repair nucleotide excision repair neurocutaneous syndromes cerebellar ataxia Huntington’s disease-like phenotypes biomarkers To study...

... of epilepsy as well as identification of potential biomarkers. This chapter reviews the aspects of TSC unique to pediatric patients, the status of current research, and future directions. tuberous sclerosis neurocutaneous syndromes mTOR seizures infantile spasms intellectual disability genetic disorder...

... tuberin mTOR brain tubers infantile spasms neurocutaneous syndromes autism intellectual disability autosomal dominant Angiotensin converting enzyme inhibitors ACEI Hamartin tuberous sclerosis complex Infantile spasms Mammalian target of rapamycin mTOR inhibitors Rapamycin Spasms infantile...