Genomic and Personalized Medicine Perspective in Genetic Generalized Epilepsy (Systematic Review)

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TORABIAN PEDRAM; Dehestani Mohamad; Morshedi Rad Dorsa; Peiravi Shima; Aghaie Hakkak Mohsen; ASHRAF HAMI

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Paper Information

Journal: ARCHIVES OF IRANIAN MEDICINE Year:2019 | Volume:22 | Issue:9 Page(s): 516-526

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Title

Genomic and Personalized Medicine Perspective in Genetic Generalized Epilepsy (Systematic Review)

Author(s)

Keywords

AED

Antiepileptic drug

CNV

Copy number variant

Epilepsy

GWAS

Genome wide association

Abstract

The genetic generalized epilepsies (GGEs) are a set of disorders presenting with generalized seizures, in addition to general spike-wave activity. The present study aims to investigate the clinical manifestations and genetic origin of generalized tonic-clonic seizures and the subgroups of GGEs, including childhood absence Epilepsy (CAE), juvenile absence Epilepsy, and juvenile myoclonic Epilepsy (JME). Information compiled from genome-wide association studies (GWASs) in the EPICure project revealed associations with many genes. Besides, Copy number variant (CNV) discoveries have been the most inspiring turning point of Epilepsy genetic research. This phenomenon could give us an idea about microdeletions/microduplications as genetic variants throughout the whole genome. Nowadays, next-generation sequencing (NGS) approaches support neurogeneticists to unravel the predisposed putative variants in GGE to establish a better diagnosis. Consequently, previous experiments supply data for Antiepileptic drugs (AEDs) to test susceptible variants, which influence the response to drugs. As a final point, all these data should provide the current GGE patients with better genetic counseling and follow-up services.

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APA: Copy

TORABIAN, PEDRAM, Dehestani, Mohamad, Morshedi Rad, Dorsa, Peiravi, Shima, Aghaie Hakkak, Mohsen, & ASHRAF, HAMI. (2019). Genomic and Personalized Medicine Perspective in Genetic Generalized Epilepsy (Systematic Review). ARCHIVES OF IRANIAN MEDICINE, 22(9), 516-526. SID. https://sid.ir/paper/281863/en

Vancouver: Copy

TORABIAN PEDRAM, Dehestani Mohamad, Morshedi Rad Dorsa, Peiravi Shima, Aghaie Hakkak Mohsen, ASHRAF HAMI. Genomic and Personalized Medicine Perspective in Genetic Generalized Epilepsy (Systematic Review). ARCHIVES OF IRANIAN MEDICINE[Internet]. 2019;22(9):516-526. Available from: https://sid.ir/paper/281863/en

IEEE: Copy

PEDRAM TORABIAN, Mohamad Dehestani, Dorsa Morshedi Rad, Shima Peiravi, Mohsen Aghaie Hakkak, and HAMI ASHRAF, “Genomic and Personalized Medicine Perspective in Genetic Generalized Epilepsy (Systematic Review),” ARCHIVES OF IRANIAN MEDICINE, vol. 22, no. 9, pp. 516–526, 2019, [Online]. Available: https://sid.ir/paper/281863/en

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