{"id":4412,"date":"2020-10-31T13:15:10","date_gmt":"2020-10-31T12:15:10","guid":{"rendered":"https:\/\/encore-expertisecentrum.nl\/?page_id=4412"},"modified":"2024-07-16T14:25:55","modified_gmt":"2024-07-16T12:25:55","slug":"tubereuze-sclerose-complex-tsc","status":"publish","type":"page","link":"https:\/\/encore-expertisecentrum.nl\/en\/publications\/tubereuze-sclerose-complex-tsc\/","title":{"rendered":"Tuberous sclerosis complex (TSC)"},"content":{"rendered":"[vc_row][vc_column][vc_tta_accordion][vc_tta_section title=”Publicaties Tubereuze sclerose complex” tab_id=”1588325715276-80d12435-d6f0″][vc_column_text]Heuvelmans AM, et.al. (2024) Modeling mTORopathy-related epilepsy in cultured murine hippocampal neurons using the multi-electrode array.<\/strong> Exp Neurol<\/em>. Pubmed<\/a><\/span><\/p>\n

M\u00fcller AR, et.al. (2024) Cannabidiol (Epidyolex\u00ae) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials. <\/strong>BMC Psychiatry.<\/em> Pubmed<\/a><\/span><\/p>\n

M\u00fcller AR, et.al. (2023) Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM.<\/strong> BMC Med<\/em>. Aug 8;21(1):298. Pubmed<\/a><\/span><\/p>\n

Lubbers K, et.al. (2022) Autism Symptoms in Children and Young Adults With Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex, and Neurofibromatosis Type 1: A Cross-Syndrome Comparison.<\/strong> Front Psychiatry. <\/em>Pubmed<\/a><\/span><\/p>\n

Koene LM, et.al. (2021) Identifying the temporal electrophysiological and molecular changes that contribute to TSC-associated epileptogenesis<\/strong>. JCI Insight.<\/em> 6(23):e150120. Pubmed<\/a><\/span><\/p>\n

Koene LMC, et al.<\/em> (2019) Effects of antiepileptic drugs in a new TSC\/mTOR-dependent epilepsy mouse model.<\/strong> Ann Clin Transl Neurol.<\/em> 6; 1273\u201391. Pubmed<\/span><\/a><\/p>\n

Overwater IE, et al<\/em>. (2019) A randomized controlled trial with everolimus for IQ and autism in tuberous sclerosis complex. <\/strong>Neurology. <\/em>93; E200\u20139. Pubmed<\/span><\/a><\/p>\n

Overwater IE, et.al.<\/em> (2019) Everolimus for the treatment of refractory seizures associated with tuberous sclerosis complex (TSC): Current perspectives.<\/strong> Ther Clin Risk Manag.<\/em> 951\u20135. Pubmed<\/span><\/a><\/p>\n

Mous SE, et al.<\/em> (2018) Cortical dysplasia and autistic trait severity in children with Tuberous Sclerosis Complex: a clinical epidemiological study.<\/strong> Eur Child Adolesc Psychiatry.<\/em> 27; 753\u201365. Pubmed<\/span><\/a><\/p>\n

Both P, et al.<\/em> (2018) Tuberous sclerosis complex: Concerns and needs of patients and parents from the transitional period to adulthood.<\/strong> Epilepsy Behav<\/em>.\u00a0 Pubmed<\/span><\/a><\/p>\n

Overwater IE, et al.<\/em> (2017) Interdependence of clinical factors predicting cognition in children with tuberous sclerosis complex.<\/strong> J Neurol.<\/em> 264; 161\u20137. Pubmed<\/span><\/a><\/p>\n

Reijnders MRF, et al.<\/em> (2017) Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.<\/strong> Nat Commun<\/em>. Pubmed<\/span><\/a><\/p>\n

Overwater IE, et al.<\/em> (2016) Genotype and brain pathology phenotype in children with tuberous sclerosis complex.<\/strong> Eur J Hum Genet.<\/em> 24; 1688\u201395. Pubmed<\/span><\/a><\/p>\n

Overwater IE, et al.<\/em> (2016) Sirolimus for epilepsy in children with tuberous sclerosis complex.<\/strong> Neurology<\/em>. 87; 1011\u20138. Pubmed<\/span><\/a><\/p>\n

Overwater IE, et al.<\/em> (2015) Epilepsy in children with tuberous sclerosis complex: Chance of remission and response to antiepileptic drugs.<\/strong> Epilepsia.<\/em> 56; 1239\u201345. Pubmed<\/span><\/a><\/p>\n

Goorden SMI, et.al. <\/em>(2015) Intact neuronal function in Rheb1 mutant mice: implications for TORC1-based treatments.<\/strong> Hum Mol Genet<\/em> 24; 3390\u20138. Pubmed<\/span><\/a><\/p>\n

Peters JM, et al.<\/em> (2014) Diffusion tensor imaging and related techniques in tuberous sclerosis complex: review and future directions.<\/strong> Future Neurol<\/em> 8; 583\u201397. Pubmed<\/span><\/a><\/p>\n

Overwater IE, et.al<\/em>. (2014) Treatment of intractable epilepsy in tuberous sclerosis complex with everolimus is not yet evidence-based. <\/strong>Ann Neurol<\/em>. Pubmed<\/span><\/a>
\n<\/u><\/p>\n

Abs, E. et al.<\/em> (2013) TORC1-dependent epilepsy caused by acute biallelic Tsc1 deletion in adult mice.<\/strong> Ann Neurol<\/em> 74, 569\u2013579. Pubmed<\/span><\/a><\/p>\n

Overwater, I.E. et al.<\/em> (2013) Behandelingen voor genetische neurocognitieve aandoeningen.<\/strong> Neuropraxis<\/em> 5, 132\u2013138. Link<\/span><\/a><\/p>\n

van Eeghen, A.M. et al.<\/em> (2013) The neuroanatomical phenotype of tuberous sclerosis complex: focus on radial migration lines.<\/strong> Neuroradiology<\/em> 55, 1007\u20131014. Pubmed<\/span><\/a><\/p>\n

Melser, S. et al.<\/em> (2013) Rheb regulates mitophagy induced by mitochondrial energetic status.<\/strong> Cell Metabolism<\/em> 17, 719\u2013730. Pubmed<\/span><\/a><\/p>\n

van Eeghen, A.M. et al.<\/em> (2013) Central TSC2 missense mutations are associated with a reduced risk of infantile spasms.<\/strong> Epilepsy Res<\/em> 103, 83\u201387. Pubmed<\/span><\/a><\/p>\n

van Eeghen, A.M. et al.<\/em> (2012) Understanding relationships between autism, intelligence, and epilepsy: a cross-disorder approach.<\/strong> Dev Med Child Neurol <\/em>55, 146\u2013153. Pubmed<\/span><\/a><\/p>\n

Hoogeveen-Westerveld, M. et al.<\/em> (2012) Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex.<\/strong> Hum Mutat.<\/em>\u00a0Pubmed<\/span><\/a><\/p>\n

van Eeghen, A.M. et al.<\/em> (2012) Genotype and cognitive phenotype of patients with tuberous sclerosis complex.<\/strong> Eur J Hum Genet<\/em> 20, 510\u2013515. Pubmed<\/span><\/a><\/p>\n

van Eeghen, A.M. et al.<\/em> (2012) Cognitive and adaptive development of patients with tuberous sclerosis complex: A retrospective, longitudinal investigation. <\/strong>Epilepsy Behav<\/em> 23, 10\u201315. Pubmed<\/span><\/a><\/p>\n

Goorden, S.M.I. et al.<\/em> (2011) Rheb is essential for murine development.<\/strong> Mol Cell Biol<\/em> 31, 1672\u20131678. Pubmed<\/span><\/a><\/p>\n

Goorden, S.M.I. and Elgersma, Y. (2011) Rheb: enrichment beyond the brain.<\/strong> Cell Cycle<\/em> 10, 2412\u20132413. Pubmed<\/span><\/a><\/p>\n

van den Ouweland, A.M.W. et al.<\/em> (2011) Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients. <\/strong>Eur J Hum Genet<\/em> 19, 157\u2013163. Pubmed<\/span><\/a><\/p>\n

van Eeghen, A.M. et al.<\/em> (2011) Characterizing sleep disorders of adults with tuberous sclerosis complex: a questionnaire-based study and review.<\/strong> Epilepsy Behav<\/em> 20, 68\u201374. Pubmed<\/span><\/a><\/p>\n

Goorden, S.M.I. et al.<\/em> (2007) Cognitive deficits in Tsc1+\/- mice in the absence of cerebral lesions and seizures. <\/strong>Ann Neurol<\/em> 62, 648\u2013655. Pubmed<\/span><\/a><\/p>\n

Sancak, O. et al.<\/em> (2005) Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype–phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex.<\/strong> Eur J Hum Genet <\/em>13, 731\u2013741. Pubmed<\/span><\/a><\/p>\n

Nellist, M. et al.<\/em> (2005) Large deletion at the TSC1 locus in a family with tuberous sclerosis complex.<\/strong> Genet. Test.<\/em> 9, 226\u2013230. Pubmed<\/span><\/a><\/p>\n

Nellist, M. et al.<\/em> (2003) Regulation of tuberous sclerosis complex (TSC) function by 14-3-3 proteins.<\/strong> Biochem Soc Trans<\/em> 31, 587\u2013591. Pubmed<\/span><\/a><\/p>\n

Nellist, M. et al.<\/em> (2001) TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex.<\/strong> Hum Mol Genet<\/em> 10, 2889\u20132898. Pubmed<\/span><\/a><\/p>\n

Goedbloed, M.A. et al.<\/em> (2001) Analysis of TSC2 stop codon variants found in tuberous sclerosis patients.<\/strong> Eur J Hum Genet <\/em>9, 823\u2013828. Pubmed<\/span><\/a><\/p>\n

Nellist, M. et al.<\/em> (1999) Characterization of the cytosolic tuberin-hamartin complex. Tuberin is a cytosolic chaperone for hamartin.<\/strong> J Biol Chem<\/em> 274, 35647\u201335652. Pubmed<\/span><\/a><\/p>\n

Verhoef, S. et al.<\/em> (1999) High rate of mosaicism in tuberous sclerosis complex.<\/strong> Am J Hum Genet<\/em> 64, 1632\u20131637. Pubmed<\/span><\/a><\/p>\n

van Slegtenhorst, M. et al.<\/em> (1999) Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation.<\/strong> J Med Genet<\/em> 36, 285\u2013289. Pubmed<\/span><\/a><\/p>\n

Verhoef, S. et al.<\/em> (1999) Malignant pancreatic tumour within the spectrum of tuberous sclerosis complex in childhood.<\/strong> Eur J Pediatr<\/em> 158, 284\u2013287. Pubmed<\/span><\/a><\/p>\n

van Slegtenhorst, M. et al.<\/em> (1998) Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. <\/strong>Hum Mol Genet<\/em> 7, 1053\u20131057. Pubmed<\/span><\/a><\/p>\n

Wang, Q. et al.<\/em> (1998) Identification of a large insertion and two novel point mutations (3671del8 and S1221X) in tuberous sclerosis complex (TSC) patients. Mutations in brief no. 119. Online.<\/strong> Hum Mutat<\/em> 11, 331\u2013332. Pubmed<\/span><\/a><\/p>\n

van Slegtenhorst, M. et al.<\/em> (1997) Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. <\/strong>Science<\/em> 277, 805\u2013808. Pubmed<\/span><\/a><\/p>\n

Rinke de Wit, T.F. et al.<\/em> (1996) Expression of tyrosine kinase gene in mouse thymic stromal cells. <\/strong>Int Immunol.<\/em> 8, 1787\u20131795. Pubmed<\/span><\/a><\/p>\n

Vrtel, R. et al.<\/em> (1996) Identification of a nonsense mutation at the 5′ end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex.<\/strong> J Med Genet<\/em> 33, 47\u201351. Pubmed<\/span><\/a><\/p>\n

Halley, D.J. (1996) Tuberous sclerosis: between genetic and physical analysis.<\/strong> Acta Genet Med Gemellol (Roma)<\/em> 45, 63\u201375. Pubmed<\/span><\/a><\/p>\n

van Slegtenhorst, M. et al.<\/em> (1995) Cosmid contigs from the tuberous sclerosis candidate region on chromosome 9q34. <\/strong>Eur J Hum Genet <\/em>3, 78\u201386. Pubmed<\/span><\/a><\/p>\n

Janssen, B. et al.<\/em> (1994) Refined localization of TSC1 by combined analysis of 9q34 and 16p13 data in 14 tuberous sclerosis families.<\/strong> Hum Genet<\/em> 94, 437\u2013440. Pubmed<\/span><\/a>[\/vc_column_text][\/vc_tta_section][\/vc_tta_accordion][\/vc_column][\/vc_row]","protected":false},"excerpt":{"rendered":"

[vc_row][vc_column][vc_tta_accordion][vc_tta_section title=”Publicaties Tubereuze sclerose complex” tab_id=”1588325715276-80d12435-d6f0″][vc_column_text]Heuvelmans AM, et.al. (2024) Modeling mTORopathy-related epilepsy in cultured murine hippocampal neurons using the multi-electrode array. Exp Neurol. Pubmed M\u00fcller AR, et.al. (2024) Cannabidiol (Epidyolex\u00ae) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 […]<\/p>","protected":false},"author":1,"featured_media":0,"parent":3957,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":[],"_links":{"self":[{"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages\/4412"}],"collection":[{"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/comments?post=4412"}],"version-history":[{"count":9,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages\/4412\/revisions"}],"predecessor-version":[{"id":5199,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages\/4412\/revisions\/5199"}],"up":[{"embeddable":true,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages\/3957"}],"wp:attachment":[{"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/media?parent=4412"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}