Page 24 - scheppingen
P. 24
one
22
epilepsy with emphasis on surgical aspects. Childs Nervous System. 2006;22(8):896-908.
25. Curatolo P. Mechanistic target of rapamycin (mTOR) in tuberous sclerosis complex-associated
epilepsy. Pediatr Neurol. 2015 Mar;52(3):281-9.
26. Crino PB, Nathanson KL, Henske EP. The tuberous sclerosis complex. New England Journal of
Medicine. 2006;355(13):1345-56.
27. Park SH, Pepkowitz SH, Kerfoot C, et al. Tuberous sclerosis in a 20-week gestation fetus: immuno-
histochemical study. Acta neuropathologica. 1997 Aug;94(2):180-6.
28. Prabowo AS, Anink JJ, Lammens M, et al. Fetal brain lesions in tuberous sclerosis complex: TORC1
activation and inflammation. Brain pathology. 2013 Jan;23(1):45-59.
29. Curatolo P, Aronica E, Jansen A, et al. Early onset epileptic encephalopathy or genetically deter-
mined encephalopathy with early onset epilepsy? Lessons learned from TSC. Eur J Paediatr
Neurol. 2016 Mar;20(2):203-11.
30. Curatolo P, Seri S, Verdecchia M, Bombardieri R. Infantile spasms in tuberous sclerosis complex.
Brain & development. 2001 Nov;23(7):502-7.
31. ECTS C. Identification and characterization of the tuberous sclerosis gene on chromosome 16.
The European Chromosome 16 Tuberous Sclerosis Consortium. Cell. 1993;75(7):1305-15.
32. van Slegtenhorst M, Verhoef S, Tempelaars A, et al. Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correla-
tion. Journal of medical genetics. 1999 Apr;36(4):285-9.
33. Au KS, Williams AT, Gambello MJ, Northrup H. Molecular genetic basis of tuberous sclerosis com-
plex: from bench to bedside. Journal of child neurology. 2004 Sep;19(9):699-709.
34. Nellist M, Brouwer RW, Kockx CEM, et al. Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations. BMC Medical Genetics. 2015;DOI 10.1186/s12881-015-0155-4.
35. Martin KR, Zhou W, Bowman MJ, et al. The genomic landscape of tuberous sclerosis complex.
Nature communications. 2017 Jun 15;8:15816.
36. Laplante M, Sabatini DM. mTOR signaling in growth control and disease. Cell. 2012 Apr
13;149(2):274-93.
37. Mizuguchi M, Takashima S. Neuropathology of tuberous sclerosis. Brain & development.
2001;23(7):508-15.
38. DiMario FJ, Jr. Brain abnormalities in tuberous sclerosis complex. Journal of child neurology.
2004;19(9):650-7.
39. Aronica E, Crino PB. Epilepsy related to developmental tumors and malformations of cortical
development. Neurotherapeutics. 2014 Apr;11(2):251-68.
40. Koh S, Jayakar P, Dunoyer C, et al. Epilepsy surgery in children with tuberous sclerosis complex:
presurgical evaluation and outcome. Epilepsia. 2000 Sep;41(9):1206-13.
41. Weiner HL, Carlson C, Ridgway EB, et al. Epilepsy surgery in young children with tuberous sclerosis:
results of a novel approach. Pediatrics. 2006;117(5):1494-502.
42. Bollo RJ, Kalhorn SP, Carlson C, Haegeli V, Devinsky O, Weiner HL. Epilepsy surgery and tuberous
sclerosis complex: special considerations. Neurosurgical Focus. 2008;25(3):E13.
43. Wang Y, Greenwood JS, Calcagnotto ME, Kirsch HE, Barbaro NM, Baraban SC. Neocortical hyper- excitability in a human case of tuberous sclerosis complex and mice lacking neuronal expression
of TSC1. Annals of neurology. 2007;61(2):139-52.
44. Madhavan D, Weiner HL, Carlson C, Devinsky O, Kuzniecky R. Local epileptogenic networks in
tuberous sclerosis complex: a case review. Epilepsy Behav. 2007 Aug;11(1):140-6.
45. Moshel YA, Elliott R, Teutonico F, et al. Do tubers contain function? Resection of epileptogenic foci in perirolandic cortex in children with tuberous sclerosis complex. Epilepsia. 2010 Jul;51(7):1242-51.
46. Fallah A, Rodgers SD, Weil AG, et al. Resective Epilepsy Surgery for Tuberous Sclerosis in Children: Determining Predictors of Seizure Outcomes in a Multicenter Retrospective Cohort Study.
Neurosurgery. 2015 Oct;77(4):517-24; discussion 24.
47. Fujiwara H, Leach JL, Greiner HM, et al. Resection of ictal high frequency oscillations is associated
with favorable surgical outcome in pediatric drug resistant epilepsy secondary to tuberous scle-
rosis complex. Epilepsy research. 2016 Oct;126:90-7.
48. Liang S, Zhang J, Yang Z, et al. Long-term outcomes of epilepsy surgery in tuberous sclerosis com-
plex. J Neurol. 2017 Jun;264(6):1146-54.
49. Kannan L, Vogrin S, Bailey C, Maixner W, Harvey AS. Centre of epileptogenic tubers generate and