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- W2997239552 abstract "Non-lesional refractory epilepsy evaluation involves genetic testing. However, there are some genetic forms of epilepsy which need more detailed network evaluation. This emerging field of network medicine applies tools and concepts from ‘network theory’ to interpret this diagram and elucidate the relation between perturbations on the molecular level and phenotypic disease manifestations. The interactome, i.e., the integrated network of all physical interactions within the cell, can be interpreted as a map and diseases as local perturbations. A 17-year-old boy presented with refractory epilepsy and developmental delay. He was taking a combination of Valproate and Lamotrigine in adequate dose. His elder brother, who also suffered from refractory epilepsy had a sudden death. MRI of the Brain was normal. Using clinical exome sequencing data, the genes were extracted and classified according to ACMG(American College of Medical Genetics) guidelines. Separation of genes were further done by identifying mutations that were present homozygously. Using these data, proteins with gain of function and loss of function were listed using stitch online software. Interactome was visualized using cytoscape software (fig. 1). GRM1 receptor targeted pathways were found to be active. This gene encodes a metabotropic glutamate receptor that functions by activating phospholipase C. They act presynaptically to modify glutamatergic and gamma-aminobutyric acid (GABA)-ergic transmission and can contribute to long-term changes in synaptic function. Moreover, pathways inhibited by Valproate and Lamotrigine were found to be mutated in the genes identified. Interactomes therefore may open up newer vistas in diagnosis and in treatment." @default.
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- W2997239552 date "2019-10-01" @default.
- W2997239552 modified "2023-09-27" @default.
- W2997239552 title "Role of interactome development in evaluation of refractory epilepsy: A case report" @default.
- W2997239552 doi "https://doi.org/10.1016/j.jns.2019.10.1821" @default.
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