Neuroimaging and genetic characteristics of malformation of cortical development due to mTOR pathway dysregulation: clues for the epileptogenic lesions and indications for epilepsy surgery

Specchio, Nicola; Pepi, Chiara; Palma, Luca De; Trivisano, Marina; Vigevano, Federico; Curatolo, Paolo

doi:10.1080/14737175.2021.1906651

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Cited by 4 publications

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“…Mechanistic target of rapamycin (mTOR) pathway plays a specific role in epileptogenesis in several neurological disorders, belonging to the group of ''mTORopathies'', including focal cortical dysplasia, tuberous sclerosis complex (TSC), and hemimegalencephaly [1][2][3]. TSC is an autosomal dominant neurocutaneous disorder resulting from a mutation in TSC1 or TSC2 genes.…”

Section: Introductionmentioning

confidence: 99%

Effect of mTOR Inhibitors in Epilepsy Treatment in Children with Tuberous Sclerosis Complex Under 2 Years of Age

et al. 2023

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Introduction: Mechanistic target of rapamycin (mTOR) inhibitors sirolimus and everolimus are an effective therapy for subependymal giant cell astrocytomas, cardiac rhabdomyomas, renal angiomyolipomas, and lymphangioleiomyomatosis associated with tuberous sclerosis complex (TSC). Everolimus was recently approved in the EU and the USA for the treatment of refractory focal-onset seizures. Despite frequent use of mTOR inhibitors, there are only a few studies on their effect on epilepsy control in children under 2 years of age. This study aims to assess the effect of adjunctive mTOR

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Section: Introductionmentioning

confidence: 99%