Neuroimaging and genetic characteristics of malformation of cortical development due to mTOR pathway dysregulation: clues for the epileptogenic lesions and indications for epilepsy surgery.
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| Abstract |
Introduction: Malformation of cortical development (MCD) is strongly associated with drug-resistant epilepsies for which surgery to remove epileptogenic lesions is common. Two notable technological advances in this field are identification of the underlying genetic cause and techniques in neuroimaging. These now question how presurgical evaluation ought to be approached for 'mTORpathies.'Area covered: From review of published primary and secondary articles, the authors summarize evidence to consider focal cortical dysplasia (FCD), tuber sclerosis complex (TSC), and hemimegalencephaly (HME) collectively as MCD mTORpathies. The authors also consider the unique features of these related conditions with particular focus on the practicalities of using neuroimaging techniques currently available to define surgical targets and predict post-surgical outcome. Ultimately, the authors consider the surgical dilemmas faced for each condition.Expert opinion: Considering FCD, TSC, and HME collectively as mTORpathies has some merit; however, a unified approach to presurgical evaluation would seem unachievable. Nevertheless, the authors believe combining genetic-centered classification and morphologic findings using advanced imaging techniques will eventually form the basis of a paradigm when considering candidacy for early surgery.
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| Authors | Nicola Specchio, Chiara Pepi, Luca De Palma, Marina Trivisano, Federico Vigevano, Paolo Curatolo |
| Journal | Expert review of neurotherapeutics (Expert Rev Neurother) Vol. 21 Issue 11 Pg. 1333-1345 (11 2021) ISSN: 1744-8360 [Electronic] England |
| PMID | 33754929 (Publication Type: Journal Article) |
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