Calcification in cerebral parenchyma affects pharmacoresistant epilepsy in tuberous sclerosis

Zhang, Mengna; Zou, Li‐Ping; Wang, Yangyang; Pang, Ling-Yu; Ma, Shufang; Huang, Lulu; Gao, Yang; Lü, Qian; Franz, David Neal

doi:10.1016/j.seizure.2018.06.011

Cited by 22 publications

(22 citation statements)

References 22 publications

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“…Cortical tubers appear in situ as focal thickening of the cortex and can be cystic or calcified as a secondary response to epileptiform activity (Chu-Shore et al, 2009 ; Gallagher et al, 2010b ; Zhang et al, 2018 ). Histological examination of cortical tubers supports their categorization into three groups based on cellular density and cell types present (Mühlebner et al, 2016b ).…”

Section: Defining a Cortical Tubermentioning

confidence: 99%

The Neurodevelopmental Pathogenesis of Tuberous Sclerosis Complex (TSC)

Feliciano

2020

Front. Neuroanat.

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Tuberous sclerosis complex (TSC) is a model disorder for understanding brain development because the genes that cause TSC are known, many downstream molecular pathways have been identified, and the resulting perturbations of cellular events are established. TSC, therefore, provides an intellectual framework to understand the molecular and biochemical pathways that orchestrate normal brain development. The TSC1 and TSC2 genes encode Hamartin and Tuberin which form a GTPase activating protein (GAP) complex. Inactivating mutations in TSC genes (TSC1/TSC2) cause sustained Ras homologue enriched in brain (RHEB) activation of the mammalian isoform of the target of rapamycin complex 1 (mTORC1). TOR is a protein kinase that regulates cell size in many organisms throughout nature. mTORC1 inhibits catabolic processes including autophagy and activates anabolic processes including mRNA translation. mTORC1 regulation is achieved through two main upstream mechanisms. The first mechanism is regulation by growth factor signaling. The second mechanism is regulation by amino acids. Gene mutations that cause too much or too little mTORC1 activity lead to a spectrum of neuroanatomical changes ranging from altered brain size (micro and macrocephaly) to cortical malformations to Type I neoplasias. Because somatic mutations often underlie these changes, the timing, and location of mutation results in focal brain malformations. These mutations, therefore, provide gainof-function and loss-of-function changes that are a powerful tool to assess the events that have gone awry during development and to determine their functional physiological consequences. Knowledge about the TSC-mTORC1 pathway has allowed scientists to predict which upstream and downstream mutations should cause commensurate neuroanatomical changes. Indeed, many of these predictions have now been clinically validated. A description of clinical imaging and histochemical findings is provided in relation to laboratory models of TSC that will allow the reader to appreciate how human pathology can provide an understanding of the fundamental mechanisms of development.

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Section: Defining a Cortical Tubermentioning

confidence: 99%

The Neurodevelopmental Pathogenesis of Tuberous Sclerosis Complex (TSC)

Feliciano

2020

Front. Neuroanat.

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“…During full text analysis, additional thirty-one reports were excluded as they either did not meet inclusion or met exclusion criteria ( Figure 1 ). Overall, 19 reports were included in the systematic review [ 2 , 10 , 12 , 14 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 ]. The inclusion and exclusion criteria available for each article are included in Table 1 .…”

Section: Resultsmentioning

confidence: 99%

Risk Factors Associated with Refractory Epilepsy in Patients with Tuberous Sclerosis Complex: A Systematic Review

Śmiałek

Sugalska

Jóźwiak

2021

JCM

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Background: Epilepsy affects 70–90% of patients with tuberous sclerosis complex (TSC). In one-third of them, the seizures become refractory to treatment. Drug-resistant epilepsy (DRE) carries a significant educational, social, cognitive, and economic burden. Therefore, determining risk factors that increase the odds of refractory seizures is needed. We reviewed current data on risk factors associated with DRE in patients with tuberous sclerosis. Methods: The review was performed according to the PRISMA guidelines. Embase, Cochrane Library, MEDLINE, and ClinicalTrial.gov databases were searched. Only full-text journal articles on patients with TSC which defined risk factors related to DRE were included. Results: Twenty articles were identified, with a cohort size between 6 and 1546. Seven studies were prospective. Three factors appear to significantly increase DRE risk: TSC2 mutation, infantile spasms, and a high number of cortical tubers. Conclusions: A proper MRI and EEG monitoring, along with genetic testing, and close observation of individuals with early onset of seizures, allow identification of the patients at risk of DRE.

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“…An intracranial hematoma pressing on the cerebral parenchyma can also cause brain edema. A depressed fracture can puncture the dura, which damages its integrity, leading to subdural hematoma and cerebral parenchyma injury 18 . These constitute one possible pathological basis for EPTE.…”

Section: Discussionmentioning

confidence: 99%

Clinical analysis on risk factors and prognosis of early post-traumatic epilepsy

Liu

Chen

Wang

et al. 2019

Arq. Neuro-Psiquiatr.

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Objective To analyze the risk factors and prognosis related to early post-traumatic epilepsy (EPTE). Methods One hundred and eighty-six patients with traumatic brain injury were enrolled. Their full clinical data were collected. Single factor analysis and logistic regression analysis of risk factors related to EPTE were performed. The prognosis of patients was determined. Results Single factor analysis showed that there were significant differences of age (p = 0.011), epilepsy history (p < 0.001), injury site (p = 0.004), injury type (p < 0.001) and injury degree (p < 0.001) between the EPTE group (40 patients) and non-EPTE group (146 patients). Logistic regression analysis showed that the injury site, injury type and injury degree were the main risk factors for EPTE. The odds ratio values of injury site, injury type and injury degree were 1.977 (1.473–2.679), 2.096 (1.543–2.842) and 2.376 (1.864–3.609), respectively. The logistic regression equation was P = Exp (-1.473 + 0.698 × injury site + 0.717 × injury type + 0.935 × injury degree). The sensitivity and specificity of injury site, injury type and injury degree for predicting EPTE were 79.2% and 80.5%, 78.9% and 85.7% and 84.2% and 81.0%, respectively. The analysis of prognosis showed that the Glasgow Outcome Scale/Activity of Daily Living Scale scores in the EPTE group were significantly lower than those in non-EPTE group (p < 0.05). Conclusions Injury site, injury type and injury degree are the main risk factors for EPTE. The prognosis of patients with traumatic brain injury can be affected by EPTE.

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Calcification in cerebral parenchyma affects pharmacoresistant epilepsy in tuberous sclerosis

Abstract: Calcification in epileptic foci strongly indicates pharmacoresistant epilepsy in patients with TSC even when treated with appropriate anti-epilepsy drugs (AEDs) and rapamycin. Calcification can be used to evaluate pharmacoresistant epilepsy in patients with TSC.

Cited by 22 publications

References 22 publications

The Neurodevelopmental Pathogenesis of Tuberous Sclerosis Complex (TSC)

The Neurodevelopmental Pathogenesis of Tuberous Sclerosis Complex (TSC)

Risk Factors Associated with Refractory Epilepsy in Patients with Tuberous Sclerosis Complex: A Systematic Review

Clinical analysis on risk factors and prognosis of early post-traumatic epilepsy

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