Search Results - "Overwater, Iris E."
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TORC1-dependent epilepsy caused by acute biallelic Tsc1 deletion in adult mice
Published in Annals of neurology (01-10-2013)“…Objective Seizure development in tuberous sclerosis complex (TSC) correlates with the presence of specific lesions called cortical tubers. Moreover,…”
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A randomized controlled trial with everolimus for IQ and autism in tuberous sclerosis complex
Published in Neurology (09-07-2019)“…OBJECTIVETo investigate whether mammalian target of rapamycin inhibitor everolimus can improve intellectual disability, autism, and other neuropsychological…”
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Epilepsy in children with tuberous sclerosis complex: Chance of remission and response to antiepileptic drugs
Published in Epilepsia (Copenhagen) (01-08-2015)“…Summary Objective To describe treatment and outcome of epilepsy in children with tuberous sclerosis complex (TSC). Methods Seventy‐one children with TSC and…”
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Sirolimus for epilepsy in children with tuberous sclerosis complex: A randomized controlled trial
Published in Neurology (06-09-2016)“…OBJECTIVE:To investigate whether mammalian target of rapamycin complex 1 (mTORC1) inhibitors could reduce seizure frequency in children with tuberous sclerosis…”
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Everolimus for the treatment of refractory seizures associated with tuberous sclerosis complex (TSC): current perspectives
Published in Therapeutics and clinical risk management (01-01-2019)“…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…”
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Treatment of Cognitive Deficits in Genetic Disorders: A Systematic Review of Clinical Trials of Diet and Drug Treatments
Published in JAMA neurology (01-09-2015)“…Knowing the underlying etiology of intellectual disability in genetic disorders holds great promise for developing targeted treatments. Although successful…”
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Author response: Sirolimus for epilepsy in children with tuberous sclerosis complex: A randomized controlled trial
Published in Neurology (07-03-2017)Get full text
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Genotype and brain pathology phenotype in children with tuberous sclerosis complex
Published in European journal of human genetics : EJHG (01-12-2016)“…Structural brain malformations associated with Tuberous Sclerosis Complex (TSC) are related to the severity of the clinical symptoms and can be visualized by…”
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Cortical dysplasia and autistic trait severity in children with Tuberous Sclerosis Complex: a clinical epidemiological study
Published in European child & adolescent psychiatry (01-06-2018)“…Tuberous Sclerosis Complex (TSC) is characterized by a high prevalence of autism spectrum disorders (ASD). Little is known about the relation between cortical…”
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Counselling in tuberous sclerosis complex: A survey on content and satisfaction in the Netherlands
Published in European journal of paediatric neurology (01-03-2020)“…Tuberous sclerosis complex (TSC) is a highly variable condition and its clinical features cannot reliably be predicted from the genotype. Counselling of…”
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Treatment of intractable epilepsy in tuberous sclerosis complex with everolimus is not yet evidence-based
Published in Annals of neurology (01-01-2014)Get full text
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