A novel biallelic <i>LMNB2</i> variant in a patient with progressive myoclonus epilepsy and ataxia: A case of laminopathy

Valilou, Saeed Farajzadeh; Hagh, Javad Karimzad; Asl, Mohammad Salimi; Rad, Isa Abdi; Edizadeh, Masoud; Pooladi, Arash

doi:10.1002/ccr3.4520

Cited by 4 publications

(1 citation statement)

References 27 publications

(63 reference statements)

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“…In addition, the disruption of exosomal activity is itself a powerful trigger for epilepsy, negatively affecting many systems, such as the mTOR system and the translation machinery [ 21 , 22 ]. Separately from this complex, the LMNB2 gene mutations are often accompanied by epilepsy [ 23 ], and this gene is also involved in epigenetic regulation, directly affecting chromatin and the structure of the nucleus [ 24 ].…”

Section: Discussion Of Identified Pathwaysmentioning

confidence: 99%

Forward Genetics-Based Approaches to Understanding the Systems Biology and Molecular Mechanisms of Epilepsy

Shevlyakov

Колесникова

Abreu

et al. 2023

IJMS

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Epilepsy is a highly prevalent, severely debilitating neurological disorder characterized by seizures and neuronal hyperactivity due to an imbalanced neurotransmission. As genetic factors play a key role in epilepsy and its treatment, various genetic and genomic technologies continue to dissect the genetic causes of this disorder. However, the exact pathogenesis of epilepsy is not fully understood, necessitating further translational studies of this condition. Here, we applied a computational in silico approach to generate a comprehensive network of molecular pathways involved in epilepsy, based on known human candidate epilepsy genes and their established molecular interactors. Clustering the resulting network identified potential key interactors that may contribute to the development of epilepsy, and revealed functional molecular pathways associated with this disorder, including those related to neuronal hyperactivity, cytoskeletal and mitochondrial function, and metabolism. While traditional antiepileptic drugs often target single mechanisms associated with epilepsy, recent studies suggest targeting downstream pathways as an alternative efficient strategy. However, many potential downstream pathways have not yet been considered as promising targets for antiepileptic treatment. Our study calls for further research into the complexity of molecular mechanisms underlying epilepsy, aiming to develop more effective treatments targeting novel putative downstream pathways of this disorder.

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