The Concept of an Epilepsy Brain Bank

Hernández-Ronquillo, Lizbeth; Mahabadi, Hajar Miranzadeh; Moien‐Afshari, Farzad; Wu, Aihua; Auer, Roland N.; Zherebitskiy, Viktor; Borowsky, Ron; Mickleborough, Marla; Huntsman, Richard J.; Vrbancic, Mirna; Cayabyab, Francisco S.; Taghibiglou, Changiz; Carter, Alexandra; Téllez‐Zenteno, José F.

doi:10.3389/fneur.2020.00833

Cited by 8 publications

(8 citation statements)

References 77 publications

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“…In addition, large brain projects (e.g., UK Brain Expression Consortium, Genotype-Tissue Expression Project, BrainSeq, BrainSpan, and BrainCloud) using post-autopsy brain data have shed light on the neural mechanism in many psychiatric disorders (Wang et al, 2019 ). Although the number of brain samples in epilepsy is relatively limited and understudied yet (Hernandez-Ronquillo et al, 2020 ), surgical tissues (e.g., malformation, hippocampus sclerosis) provide a unique source for genetic information. Furthermore, rapid developments in single-cell and spatial transcriptomics enable consideration of cell type or cell state and associated spatial locations (Longo et al, 2021 ).…”

Section: Challenges and Future Directions Of Imaging Genetics Methods...mentioning

confidence: 99%

Imaging Genetics in Epilepsy: Current Knowledge and New Perspectives

Wang

Wu²,

Xu³

et al. 2022

Front. Mol. Neurosci.

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Epilepsy is a neurological network disease with genetics playing a much greater role than was previously appreciated. Unfortunately, the relationship between genetic basis and imaging phenotype is by no means simple. Imaging genetics integrates multidimensional datasets within a unified framework, providing a unique opportunity to pursue a global vision for epilepsy. This review delineates the current knowledge of underlying genetic mechanisms for brain networks in different epilepsy syndromes, particularly from a neural developmental perspective. Further, endophenotypes and their potential value are discussed. Finally, we highlight current challenges and provide perspectives for the future development of imaging genetics in epilepsy.

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Section: Challenges and Future Directions Of Imaging Genetics Methods...mentioning

confidence: 99%

Imaging Genetics in Epilepsy: Current Knowledge and New Perspectives

Wang

Wu²,

Xu³

et al. 2022

Front. Mol. Neurosci.

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“…27,207 Brain and tissue banks such as the European or Canadian Epilepsy Brain Bank store frozen (−80°C) or formaldehyde-fixed, paraffin-embedded samples of brain tissue from resective surgeries for further use. 208 In conclusion, in vitro human brain cultures offer a unique platform to explore the molecular mechanisms of epilepsy, investigate potential therapeutic targets, and personalize treatment strategies for patients with epilepsy. However, since the tissue is harvested from epileptosurgery resecate it possesses limited benefits for donor patients.…”

Section: Brain Organoidsmentioning

confidence: 99%

In vitro human cell culture models in a bench‐to‐bedside approach to epilepsy

Danačíková,

Straka,

Daněk

et al. 2024

Epilepsia Open

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Epilepsy is the most common chronic neurological disease, affecting nearly 1%–2% of the world's population. Current pharmacological treatment and regimen adjustments are aimed at controlling seizures; however, they are ineffective in one‐third of the patients. Although neuronal hyperexcitability was previously thought to be mainly due to ion channel alterations, current research has revealed other contributing molecular pathways, including processes involved in cellular signaling, energy metabolism, protein synthesis, axon guidance, inflammation, and others. Some forms of drug‐resistant epilepsy are caused by genetic defects that constitute potential targets for precision therapy. Although such approaches are increasingly important, they are still in the early stages of development. This review aims to provide a summary of practical aspects of the employment of in vitro human cell culture models in epilepsy diagnosis, treatment, and research. First, we briefly summarize the genetic testing that may result in the detection of candidate pathogenic variants in genes involved in epilepsy pathogenesis. Consequently, we review existing in vitro cell models, including induced pluripotent stem cells and differentiated neuronal cells, providing their specific properties, validity, and employment in research pipelines. We cover two methodological approaches. The first approach involves the utilization of somatic cells directly obtained from individual patients, while the second approach entails the utilization of characterized cell lines. The models are evaluated in terms of their research and clinical benefits, relevance to the in vivo conditions, legal and ethical aspects, time and cost demands, and available published data. Despite the methodological, temporal, and financial demands of the reviewed models they possess high potential to be used as robust systems in routine testing of pathogenicity of detected variants in the near future and provide a solid experimental background for personalized therapy of genetic epilepsies.Plain Language SummaryEpilepsy affects millions worldwide, but current treatments fail for many patients. Beyond traditional ion channel alterations, various genetic factors contribute to the disorder's complexity. This review explores how in vitro human cell models, either from patients or from cell lines, can aid in understanding epilepsy's genetic roots and developing personalized therapies. While these models require further investigation, they offer hope for improved diagnosis and treatment of genetic forms of epilepsy.

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“…Clinical brain tissues play a critical role in unraveling the molecular mechanisms underlying neurological diseases and facilitating the development of effective treatments ( Rajput and Rajput, 2015 ; Hernandez-Ronquillo et al, 2020 ; Latimer et al, 2023 ), and also represent an invaluable resource for retrospective studies on rare diseases or conditions with long-term outcomes. Talari and Goyal, 2020 .…”

Section: Introductionmentioning

confidence: 99%

Revealing intact neuronal circuitry in centimeter-sized formalin-fixed paraffin-embedded brain

Lin,

Wang,

Chen

et al. 2024

eLife

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Tissue clearing and labeling techniques have revolutionized brain-wide imaging and analysis, yet their application to clinical formalin-fixed paraffin-embedded (FFPE) blocks remains challenging. We introduce MOCAT, a novel method for efficiently clearing and labeling centimeter-thick FFPE specimens using elevated temperature and concentrated detergents. MOCAT with multi-round immunolabeling reveals neuron circuitry regulating multiple neurotransmitter systems in a whole FFPE mouse brain, and is able to be used as the evaluation of disease treatment efficiency. MOCAT also supports expansion microscopy and can be performed on a non-sectioned 15-year-old FFPE specimen. Thus, MOCAT represents a feasible approach for researching archived FFPE specimens for future neuroscientific and 3D neuropathological analyses.

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The Concept of an Epilepsy Brain Bank

Cited by 8 publications

References 77 publications

Imaging Genetics in Epilepsy: Current Knowledge and New Perspectives

Imaging Genetics in Epilepsy: Current Knowledge and New Perspectives

In vitro human cell culture models in a bench‐to‐bedside approach to epilepsy

Revealing intact neuronal circuitry in centimeter-sized formalin-fixed paraffin-embedded brain

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