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Tytuł pozycji:

Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment.

Tytuł:
Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment.
Autorzy:
Thakran S; Genomics and Molecular Medicine Unit, Institute of Genomics and Integrative Biology (IGIB), Council of Scientific and Industrial Research (CSIR), Delhi 110007, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad 201002, India.
Guin D; Genomics and Molecular Medicine Unit, Institute of Genomics and Integrative Biology (IGIB), Council of Scientific and Industrial Research (CSIR), Delhi 110007, India.; Department of Bioinformatics, Delhi Technological University, Shahbad Daulatpur, Main Bawana Road, Delhi 110042, India.
Singh P; Genomics and Molecular Medicine Unit, Institute of Genomics and Integrative Biology (IGIB), Council of Scientific and Industrial Research (CSIR), Delhi 110007, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad 201002, India.
Singh P; Genomics and Molecular Medicine Unit, Institute of Genomics and Integrative Biology (IGIB), Council of Scientific and Industrial Research (CSIR), Delhi 110007, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad 201002, India.
Kukal S; Genomics and Molecular Medicine Unit, Institute of Genomics and Integrative Biology (IGIB), Council of Scientific and Industrial Research (CSIR), Delhi 110007, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad 201002, India.
Rawat C; Genomics and Molecular Medicine Unit, Institute of Genomics and Integrative Biology (IGIB), Council of Scientific and Industrial Research (CSIR), Delhi 110007, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad 201002, India.
Yadav S; Genomics and Molecular Medicine Unit, Institute of Genomics and Integrative Biology (IGIB), Council of Scientific and Industrial Research (CSIR), Delhi 110007, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad 201002, India.
Kushwaha SS; Department of Neurology, Institute of Human Behaviour and Allied Sciences, Dilshad Garden, Delhi 110095, India.
Srivastava AK; Department of Neurology, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110029, India.
Hasija Y; Department of Bioinformatics, Delhi Technological University, Shahbad Daulatpur, Main Bawana Road, Delhi 110042, India.
Saso L; Department of Physiology and Pharmacology 'Vittorio Erspamer', Sapienza University of Rome, P. le Aldo Moro 5, 00185 Rome, Italy.
Ramachandran S; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad 201002, India.; G N Ramachandran Knowledge Centre, Council of Scientific and Industrial Research (CSIR)-Institute of Genomics and Integrative Biology (IGIB), New Delhi 110007, India.
Kukreti R; Genomics and Molecular Medicine Unit, Institute of Genomics and Integrative Biology (IGIB), Council of Scientific and Industrial Research (CSIR), Delhi 110007, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad 201002, India.
Źródło:
International journal of molecular sciences [Int J Mol Sci] 2020 Oct 21; Vol. 21 (20). Date of Electronic Publication: 2020 Oct 21.
Typ publikacji:
Journal Article; Review
Język:
English
Imprint Name(s):
Original Publication: Basel, Switzerland : MDPI, [2000-
MeSH Terms:
Epilepsy/*drug therapy
Epilepsy/*genetics
DNA Copy Number Variations ; Epilepsy/diagnosis ; Epilepsy, Absence/genetics ; Epilepsy, Generalized/genetics ; Genetic Markers ; Humans ; Pharmacogenomic Testing ; Precision Medicine/methods ; Prognosis ; Seizures/genetics ; Time Factors
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Grant Information:
OLP-1154 CSIR- Institute of Genomics and Integrative Biology
Contributed Indexing:
Keywords: common epilepsies; epilepsy; genetic biomarker; genetic generalized epilepsy; genetics; ion channel receptors; molecular markers; precision treatment; prognosis; seizures
Substance Nomenclature:
0 (Genetic Markers)
SCR Disease Name:
Epilepsy, Idiopathic Generalized
Entry Date(s):
Date Created: 20201024 Date Completed: 20210416 Latest Revision: 20210416
Update Code:
20240105
PubMed Central ID:
PMC7589654
DOI:
10.3390/ijms21207784
PMID:
33096746
Czasopismo naukowe
Epilepsy, a neurological disease characterized by recurrent seizures, is highly heterogeneous in nature. Based on the prevalence, epilepsy is classified into two types: common and rare epilepsies. Common epilepsies affecting nearly 95% people with epilepsy, comprise generalized epilepsy which encompass idiopathic generalized epilepsy like childhood absence epilepsy, juvenile myoclonic epilepsy, juvenile absence epilepsy and epilepsy with generalized tonic-clonic seizure on awakening and focal epilepsy like temporal lobe epilepsy and cryptogenic focal epilepsy. In 70% of the epilepsy cases, genetic factors are responsible either as single genetic variant in rare epilepsies or multiple genetic variants acting along with different environmental factors as in common epilepsies. Genetic testing and precision treatment have been developed for a few rare epilepsies and is lacking for common epilepsies due to their complex nature of inheritance. Precision medicine for common epilepsies require a panoramic approach that incorporates polygenic background and other non-genetic factors like microbiome, diet, age at disease onset, optimal time for treatment and other lifestyle factors which influence seizure threshold. This review aims to comprehensively present a state-of-art review of all the genes and their genetic variants that are associated with all common epilepsy subtypes. It also encompasses the basis of these genes in the epileptogenesis. Here, we discussed the current status of the common epilepsy genetics and address the clinical application so far on evidence-based markers in prognosis, diagnosis, and treatment management. In addition, we assessed the diagnostic predictability of a few genetic markers used for disease risk prediction in individuals. A combination of deeper endo-phenotyping including pharmaco-response data, electro-clinical imaging, and other clinical measurements along with genetics may be used to diagnose common epilepsies and this marks a step ahead in precision medicine in common epilepsies management.
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