[1]
Napolioni, V., Curatolo, P.: Genetics and molecular biology of tuberous
sclerosis complex. Curr Genomics 2008; 9: 475-487.
[2]
Juelich, K., Sahin, M.: Mechanism-based treatment in tuberous sclerosis
complex. Pediatr Neurol 2014; 50: 290–296.
[3]
Curatolo, P., Bombardieri, R., Jóźwiak, S.: Tuberous sclerosis. Lancet
2008; 372: 657–668.
[4]
Dębkowska, A. E., Jóźwiak, S.: Dysregulation of mTOR pathway and
role of the rapamycine and its derivatives in treatment of neurological
disorders. Child Neurol 2015; 48: 9-13.
[5]
Tee, A. R., Fingar, D. C., Manning, B. D., et al.: Tuberous sclerosis
complex-1 and-2 gene products function together to inhibit mammalian
target of rapamycin (mTOR)-mediated downstream signaling. Proc Natl
Acad Sci 2002; 99: 13571-13576.
[6]
Tee, A. R., Manning, B. D., Roux, et al.: Tuberous sclerosis complex gene
products, Tuberin and Hamartin, control mTOR signaling by acting as
a GTPase-activating protein complex toward Rheb. Curr Biol 2003; 13:
1259-1268.
[7]
Joinson, C., O›Callaghan, F. J., Osborne, J. P., et al.: Learning disability
and epilepsy in an epidemiological sample of individuals with tuberous
sclerosis complex. Psychol Med 2003; 33: 335-344.
[8]
Northrup, H., Koenig, M. K., Au, K. S.: Tuberous sclerosis complex. [in:]
GeneReviews. Pagon, R. A., Adam, M. P. Ardinger, H. H., et al [ed.],
University of Washington, Seattle 2015.
[9]
Curatolo, P., Maria, B. L.: Tuberous sclerosis. Handb Clin Neurol 2013;
111: 323-331.
[10]
Leung, A. K., Robson, W. L. M.: Tuberous sclerosis complex: a review. J
Pediatr Health Care 2007; 21: 108-114.
[11]
Chu‐Shore, C. J., Major, P., Camposano, S., et al.: The natural history of
epilepsy in tuberous sclerosis complex. Epilepsia 2010; 51: 1236-1241.
[12]
Wu, J. Y., Peters, J. M., Goyal, M., et al.: Clinical electroencephalographic
biomarker for impending epilepsy in asymptomatic tuberous sclerosis
complex infants. Pediatr Neurol 2016; 54: 29-34.
[13]
Curatolo, P., Jóźwiak, S., Nabbout, R.: Management of epilepsy associated
with tuberous sclerosis complex (TSC): clinical recommendations. Eur J
Paediatr Neurol 2012; 16: 582-586.
[14]
Northrup, H., Krueger, D. A., Roberds, S., et al: Tuberous sclerosis
complex diagnostic criteria update: recommendations of the 2012
International Tuberous Sclerosis Complex Consensus Conference.
Pediatr Neurol 2013; 49: 243-254.
[15]
de Vries, P. J., Prather, P. A.: The tuberous sclerosis complex. N Engl J
Med 2007; 356: 93-94.
[16]
de Vries, P. J.: Targeted treatments for cognitive and neurodevelopmental
disorders in tuberous sclerosis complex. Neurotherapeutics 2010; 7:
275-282.
[17]
Bolton, P. F., Park, R. J., Higgins, J. N. P., et al.: Neuro‐epileptic
determinants of autism spectrum disorders in tuberous sclerosis
complex. Brain 2002; 125: 1247-1255.
[18]
Numis, A. L., Major, P., Montenegro, M. A., et al.: Identification of
risk factors for autism spectrum disorders in tuberous sclerosis
complex. Neurology 2011; 76: 981-987.
[19]
Prather, P., de Vries, P. J.: Behavioral and cognitive aspects of tuberous
sclerosis complex. J Child Neurol 2004; 19: 666-674.
[20]
Muzykewicz, D. A., Newberry, P., Danforth, N., et al.: Psychiatric
comorbid conditions in a clinic population of 241 patients with tuberous
sclerosis complex. Epilepsy Behav 2007; 11: 506-513.
[21]
Leclezio, L., de Vries, P.: Towards an improved understanding of TSCAssociated Neuropsychiatric Disorders (TAND). Advances in Autism
2016; 2: 76-83.
[22]
Lewis, J. C., Thomas, H. V., Murphy, K. C., et al.: Genotype and psychological
phenotype in tuberous sclerosis. J Med Genet 2004; 41: 203-207.
[23]
Raznahan, A., Joinson, C., O’Callaghan, F., et al.: Psychopathology in
tuberous sclerosis: an overview and findings in a population‐based
sample of adults with tuberous sclerosis. J Intellect Disabil Res 2006; 50:
561-569.
[24]
de Vries, P. J.: Neurodevelopmental, psychiatric and cognitive aspects of
tuberous sclerosis complex. [in:] Tuberous Sclerosis Complex: Genes,