Everolimus for the treatment of refractory seizures associated with tuberous sclerosis complex (TSC): current perspectives

Autor: André B. Rietman, Iris E. Overwater, Marie Claire Y. de Wit, Agnies M van Eeghen

Publikováno v: Therapeutics and Clinical Risk Management. 15:951-955

Up to 90% of patients with tuberous sclerosis complex (TSC) have epilepsy, and in over half of patients seizure control cannot be achieved by regular antiepileptic drugs. The underlying problem is mTOR hyperactivation due to loss of function of the T

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f36511ca1201906757fefa0689b87de7
https://doi.org/10.2147/tcrm.s145630

A randomized controlled trial with everolimus for IQ and autism in tuberous sclerosis complex

Autor: Henriëtte A. Moll, Thijs van der Vaart, Marie-Claire Y. de Wit, Leontine W. ten Hoopen, Floor E. Jansen, André B. Rietman, Iris E. Overwater, Dimitris Rizopoulos, Sabine E. Mous, Karen Bindels-de Heus, Ype Elgersma

Publikováno v: Neurology, 93(2), E200-E209. Lippincott Williams & Wilkins

ObjectiveTo investigate whether mammalian target of rapamycin inhibitor everolimus can improve intellectual disability, autism, and other neuropsychological deficits in children with tuberous sclerosis complex (TSC).MethodsIn this 12-month, randomize

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ccbdbd8230c5617fdf280ce6f5a5f39
https://doi.org/10.1212/wnl.0000000000007749

Genotype and brain pathology phenotype in children with tuberous sclerosis complex

Autor: Agnies M van Eeghen, Marie-Claire Y. de Wit, Ans M.W. van den Ouweland, Maarten H. Lequin, Mark Nellist, Henriëtte A. Moll, Marianne Hoogeveen-Westerveld, Kimberley Bm Hanemaayer, Iris E. Overwater, Rob Swenker, Emma L. van der Ende

Publikováno v: European Journal of Human Genetics, 24(12), 1688-1695. Nature Publishing Group

Structural brain malformations associated with Tuberous Sclerosis Complex (TSC) are related to the severity of the clinical symptoms and can be visualized by magnetic resonance imaging (MRI). Tuberous Sclerosis Complex is caused by inactivating TSC1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed87053c67916db9312de5b7b17bafca
https://doi.org/10.1038/ejhg.2016.85

Mechanisms underlying cognitive deficits in a mouse model for Costello Syndrome are distinct from other RASopathy mouse models

Autor: Carmen Guerra, Jadwiga Schreiber, Dick Jaarsma, Thijs van der Vaart, Alberto J. Schuhmacher, Ype Elgersma, Steven A. Kushner, Jeffrey Stedehouder, Iris E. Overwater, Laura-Anne Grimbergen

Publikováno v: Scientific Reports
Scientific Reports, 7:1256. Nature Publishing Group
Repisalud
Instituto de Salud Carlos III (ISCIII)
Scientific Reports, Vol 7, Iss 1, Pp 1-19 (2017)

RASopathies, characterized by germline mutations in genes encoding proteins of the RAS-ERK signaling pathway, show overlapping phenotypes, which manifest themselves with a varying severity of intellectual disability. However, it is unclear to what ex

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::006b81764a117d93924fa61dd641dc6b
http://europepmc.org/articles/PMC5430680

Cortical dysplasia and autistic trait severity in children with Tuberous Sclerosis Complex: a clinical epidemiological study

Autor: Gwendolyn C. Dieleman, Maarten H. Lequin, Iris E. Overwater, Sabine E. Mous, Rita Vidal Gato, Leontine W. ten Hoopen, J.J. Duvekot, Marie Claire Y. de Wit

Publikováno v: European Child & Adolescent Psychiatry
European child & adolescent psychiatry, 27(6), 753. D. Steinkopff-Verlag
European Child & Adolescent Psychiatry, 27(6), 753-765. D. Steinkopff-Verlag

Tuberous Sclerosis Complex (TSC) is characterized by a high prevalence of autism spectrum disorders (ASD). Little is known about the relation between cortical dysplasia and ASD severity in TSC. We assessed ASD severity (using the Autism Diagnostic Ob

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c542db168c6aaba7c21de09503e61c7b
https://pubmed.ncbi.nlm.nih.gov/29063203