Neocortical development and epilepsy: insights from focal cortical dysplasia and brain tumours
Blümcke I, Budday S, Poduri A, Lal D, Kobow K, Baulac S (2021)
Publication Type: Journal article, Review article
Publication year: 2021
Journal
Book Volume: 20
Pages Range: 943-955
Journal Issue: 11
DOI: 10.1016/S1474-4422(21)00265-9
Abstract
During the past decade, there have been considerable advances in understanding of the genetic and morphogenic processes underlying cortical malformations and developmental brain tumours. Focal malformations are caused by somatic (postzygotic) variants in genes related to cell growth (ie, in the mTOR pathway in focal cortical dysplasia type 2), which are acquired in neuronal progenitors during neurodevelopment. In comparison, developmental brain tumours result from somatic variants in genes related to cell proliferation (eg, in the MAP-kinase pathway in ganglioglioma), which affect proliferating glioneuronal precursors. The timing of the genetic event and the specific gene involved during neurodevelopment will drive the nature and size of the lesion, whether it is a developmental malformation or a brain tumour. There is also emerging evidence that epigenetic processes underlie a molecular memory in epileptogenesis. This knowledge will together facilitate understanding of why and how patients with these lesions have epilepsy, and could form a basis for a move towards precision medicine for this challenging cohort of patients.
Authors with CRIS profile
Ingmar Blümcke
Lehrstuhl für Neuropathologie
Silvia Budday
Lehrstuhl für Technische Mechanik
Katja Kobow
Institute of Neuropathology
Involved external institutions
Sorbonne Université
France (FR)
Veterans Affairs Healthcare System Boston and Harvard Medical School
United States (USA) (US)
Cleveland Clinic
United States (USA) (US)
France (FR)
Veterans Affairs Healthcare System Boston and Harvard Medical School
United States (USA) (US)
Cleveland Clinic
United States (USA) (US)
How to cite
APA:
Blümcke, I., Budday, S., Poduri, A., Lal, D., Kobow, K., & Baulac, S. (2021). Neocortical development and epilepsy: insights from focal cortical dysplasia and brain tumours. Lancet Neurology, 20(11), 943-955. https://dx.doi.org/10.1016/S1474-4422(21)00265-9
MLA:
Blümcke, Ingmar, et al. "Neocortical development and epilepsy: insights from focal cortical dysplasia and brain tumours." Lancet Neurology 20.11 (2021): 943-955.
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