Genetic Epilepsy Syndromes

Myers, Kenneth A.

doi:10.1212/con.0000000000001077

Cited by 3 publications

(2 citation statements)

References 118 publications

(302 reference statements)

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“…Epilepsy is one of the most common serious brain conditions that results in recurrent and unprovoked focal seizures due to an acute neurologic or systemic insult ( 23 ). Epilepsy is characterized by repetitive and persistent seizures, accompanied with transient brain dysfunction caused by abnormal synchronized discharge of important regions of the brain, as well as emotional or cognitive dysfunction ( 24 ).…”

Section: Discussionmentioning

confidence: 99%

PDCD4 silencing alleviates KA‑induced neurotoxicity of HT22 cells by inhibiting endoplasmic reticulum stress via blocking the MAPK/NF‑κB signaling pathway

Li,

Cao

2023

Exp Ther Med

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Human programmed cell death 4 (PDCD4) has been reported to participate in multiple neurological diseases. However, the role of PDCD4 in epilepsy, as well as its underlying mechanism, remains unclear. To induce excitotoxicity, 100 µM kainic acid (KA) was applied for the stimulation of HT22 cells for 12 h. Initially, the mRNA and protein expression levels of PDCD4 were evaluated using reverse transcription-quantitative PCR and western blotting. A lactate dehydrogenase assay was performed to detect cell injury. Cell apoptosis was assessed using flow cytometry and western blotting was performed to determine the expression levels of apoptosis-related proteins. Oxidative stress was detected using dichlorodihydrofluorescein diacetate staining, and malondialdehyde (MDA), superoxide dismutase (SOD) and glutathione peroxidase (GSH-Px) assay kits. Furthermore, the expression levels of MAPK/NF-κB signaling-related proteins and endoplasmic reticulum (ER) stress-related proteins C/EBP homologous protein, glucose-regulated protein 78, activating transcription factor 4 and phosphorylated-eukaryotic initiation factor-2α were assessed by western blotting. It was revealed that PDCD4 expression was markedly elevated in KA-induced HT22 cells, whereas PDCD4 silencing alleviated KA-induced neurotoxicity of HT22 cells by alleviating cell injury and inhibiting apoptosis. In addition, PDCD4 silencing reduced the levels of reactive oxygen species and MDA, but elevated those of SOD and GSH-Px. PDCD4 silencing also suppressed ER stress by blocking the MAPK/NF-κB signaling pathway. By contrast, the MAPK agonist phorbol myristate acetate reversed the effects of PDCD4 silencing on KA-induced neurotoxicity and oxidative stress in HT22 cells. In conclusion, PDCD4 silencing alleviated KA-induced neurotoxicity and oxidative stress in HT22 cells by suppressing ER stress through the inhibition of the MAPK/NF-κB signaling pathway, which may provide novel insights into the treatment of epilepsy.

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Section: Discussionmentioning

confidence: 99%

PDCD4 silencing alleviates KA‑induced neurotoxicity of HT22 cells by inhibiting endoplasmic reticulum stress via blocking the MAPK/NF‑κB signaling pathway

Li,

Cao

2023

Exp Ther Med

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“…In contrast to phenotypically heterogeneous epilepsies, some epilepsies present with very specific and characteristic clinical and diagnostic imaging findings [34]. These include clinically recognizable syndromes such as Rett and Rett-like syndromes (MECP2), Koolen-de Vries (KANSL1), or Wolf-Hirschhorn (WHS, caused by copy-number variants on chromosome 4p16.3) [35][36][37].…”

Section: Monogenic and Complex Epilepsiesmentioning

confidence: 99%

Complexity in Genetic Epilepsies: A Comprehensive Review

Rastin,

Schenkel,

Sadikovic

2023

IJMS

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Epilepsy is a highly prevalent neurological disorder, affecting between 5–8 per 1000 individuals and is associated with a lifetime risk of up to 3%. In addition to high incidence, epilepsy is a highly heterogeneous disorder, with variation including, but not limited to the following: severity, age of onset, type of seizure, developmental delay, drug responsiveness, and other comorbidities. Variable phenotypes are reflected in a range of etiologies including genetic, infectious, metabolic, immune, acquired/structural (resulting from, for example, a severe head injury or stroke), or idiopathic. This review will focus specifically on epilepsies with a genetic cause, genetic testing, and biomarkers in epilepsy.

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Education Research: Quality and Validity Evidence for a National In-Training Examination for Epilepsy Fellows

Moeller,

Gonzalez-Giraldo,

Fung

et al. 2023

Neurology Education

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Background and Objectives Epilepsy education has been transformed over the past 2 decades, leading to a need for structured formative assessment tools. The American Epilepsy Society developed the Epilepsy Fellowship In-Training Examination (EpiFITE) to provide high-quality formative assessment for fellows, to stimulate program improvement, and to guide future learning and teaching. The aim of this study was to explore validity evidence for the EpiFITE in meeting these goals. Methods Validity evidence was sought from multiple sources. The content of the examination was linked to the American Board of Psychiatry and Neurology blueprint for initial certification in epilepsy, and items were developed by trained experts. Internal structure was studied using internal consistency and item analysis. Surveys of fellows and fellowship directors focused on the examination experience (response process) and how results influenced fellow assessment, future learning, and program improvement (relationship to other variables and consequences). Results The EpiFITE was first administered in 2020, with 172 examinees from 67 programs. By 2022 (year 3), the EpiFITE was completed by 195 epilepsy fellows from 77 programs. The overall mean score of the examination was stable from year to year, and the committee predicted the difficulty of individual items with a high degree of accuracy. The examination had high internal consistency (Cronbach α 0.76–0.81). The median item discrimination index ranged from 0.17 in 2020 to 0.21 in 2022. Discrimination indices were lower (mean ≤0.10) for items that were either very easy or very difficult and significantly higher (mean >0.20) for other items. Program directors and epilepsy fellows agreed the examination questions were appropriate and agreed that the EpiFITE helped them identify areas for self-directed learning. Program directors also found the examination helpful in identifying areas of strength and areas for improvement within their programs. Discussion There are several sources of evidence of the quality and validity of the EpiFITE. By exploring this validity evidence, we have identified several best practices in the development and evaluation of a subspecialty examination, and this experience could be helpful for developers of in-training examinations in other subspecialties.

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Genetic Epilepsy Syndromes

Cited by 3 publications

References 118 publications

PDCD4 silencing alleviates KA‑induced neurotoxicity of HT22 cells by inhibiting endoplasmic reticulum stress via blocking the MAPK/NF‑κB signaling pathway

PDCD4 silencing alleviates KA‑induced neurotoxicity of HT22 cells by inhibiting endoplasmic reticulum stress via blocking the MAPK/NF‑κB signaling pathway

Complexity in Genetic Epilepsies: A Comprehensive Review

Education Research: Quality and Validity Evidence for a National In-Training Examination for Epilepsy Fellows

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