Abstract
Specific genetic anomalies or non-genetic factors could lead to epilepsy, but in various cases the underlying cause is unknown. Novel technologies, such as array comparative genomic hybridization, may reveal the copy number variants (CNVs), established as significant risk factor for epilepsy. This study carried out a high-density whole genome array- comparative genomic hybridization analysis with blood DNA samples from a cohort of twenty epilepsy patients to search for CNVs associated with epilepsy. Microdeletion of 14q31.1 was observed in four patients including two from the same family with loss of the NRXN3 gene; microdeletion of 15q12 in one patient with loss of the GABRG3 gene, and microduplication of 20q13.33 in three patients with loss of the gene group CHRNA4, KCNQ2, EEF1A2 and PPDPF were also found. These CNV findings were confirmed by real-time quantitative polymerase chain reaction. We have described, for the first time, numerous potential CNVs/genes implicated in epilepsy in the Saudi population. The study presents a better description of the genetic variations in epilepsy, and would eventually enable us to provide a foundation for understanding the critical genome regions which might be involved in the development of epilepsy.
Keywords: Array-comparative genomic hybridization, copy number variations, epilepsy, microdeletions, microduplications.
CNS & Neurological Disorders - Drug Targets
Title:Array-Comparative Genomic Hybridization Analysis of a Cohort of Saudi Patients with Epilepsy
Volume: 14 Issue: 4
Author(s): Muhammad Faheem, Muhammad I. Naseer, Adeel G. Chaudhary, Taha A. Kumosani, Mahmood Rasool, Hussein A. Algahtani, Fehmida Bibi, Mohammad A. Kamal and Mohammad H. Al-Qahtani
Affiliation:
Keywords: Array-comparative genomic hybridization, copy number variations, epilepsy, microdeletions, microduplications.
Abstract: Specific genetic anomalies or non-genetic factors could lead to epilepsy, but in various cases the underlying cause is unknown. Novel technologies, such as array comparative genomic hybridization, may reveal the copy number variants (CNVs), established as significant risk factor for epilepsy. This study carried out a high-density whole genome array- comparative genomic hybridization analysis with blood DNA samples from a cohort of twenty epilepsy patients to search for CNVs associated with epilepsy. Microdeletion of 14q31.1 was observed in four patients including two from the same family with loss of the NRXN3 gene; microdeletion of 15q12 in one patient with loss of the GABRG3 gene, and microduplication of 20q13.33 in three patients with loss of the gene group CHRNA4, KCNQ2, EEF1A2 and PPDPF were also found. These CNV findings were confirmed by real-time quantitative polymerase chain reaction. We have described, for the first time, numerous potential CNVs/genes implicated in epilepsy in the Saudi population. The study presents a better description of the genetic variations in epilepsy, and would eventually enable us to provide a foundation for understanding the critical genome regions which might be involved in the development of epilepsy.
Export Options
About this article
Cite this article as:
Faheem Muhammad, I. Naseer Muhammad, G. Chaudhary Adeel, A. Kumosani Taha, Rasool Mahmood, A. Algahtani Hussein, Bibi Fehmida, A. Kamal Mohammad and H. Al-Qahtani Mohammad, Array-Comparative Genomic Hybridization Analysis of a Cohort of Saudi Patients with Epilepsy, CNS & Neurological Disorders - Drug Targets 2015; 14 (4) . https://dx.doi.org/10.2174/1871527314666150429111737
DOI https://dx.doi.org/10.2174/1871527314666150429111737 |
Print ISSN 1871-5273 |
Publisher Name Bentham Science Publisher |
Online ISSN 1996-3181 |
- Author Guidelines
- Graphical Abstracts
- Fabricating and Stating False Information
- Research Misconduct
- Post Publication Discussions and Corrections
- Publishing Ethics and Rectitude
- Increase Visibility of Your Article
- Archiving Policies
- Peer Review Workflow
- Order Your Article Before Print
- Promote Your Article
- Manuscript Transfer Facility
- Editorial Policies
- Allegations from Whistleblowers
Related Articles
-
Structural Properties of the NMDA Receptor and the Design of Neuroprotective Therapies
Mini-Reviews in Medicinal Chemistry [General Articles] Cannabinoids: Mechanisms and Therapeutic Applications in the CNS
Current Medicinal Chemistry Topiramate Decelerates Bicarbonate-Driven Acid-Elimination of Human Neocortical Neurons: Strategic Significance for its Antiepileptic, Antimigraine and Neuroprotective Properties
CNS & Neurological Disorders - Drug Targets An Update on Overcoming MDR1-Mediated Multidrug Resistance in Cancer Chemotherapy
Current Pharmaceutical Design Nanotechnology as Potential Strategy for the Treatment of Pharmacoresistant Epilepsy and Comorbid Psychiatric Disorders
Mini-Reviews in Medicinal Chemistry The Interaction of DNA-Binding Ligands with Trinucleotide-Repeat DNA: Implications for Therapy and Diagnosis of Neurological Disorders
Current Topics in Medicinal Chemistry Subject Index to Volume 1
Current Neurovascular Research Abnormal Functional and Structural Asymmetry as Biomarker for Schizophrenia
Current Topics in Medicinal Chemistry Pharmacological Screening of Lantana camara for its Antiallergic Activity in Rodents
Clinical Anti-Inflammatory & Anti-Allergy Drugs (Discontinued) Targeting Neuronal Nicotinic Receptors: a Path to New Therapies
Current Drug Targets - CNS & Neurological Disorders Triterpene Derivatives as Inhibitors of Protein Involved in the Inflammatory Process: Molecules Interfering with Phospholipase A2, Cycloxygenase, and Lipoxygenase
Current Drug Targets Insulin Growth Factor-I Promotes Functional Recovery After a Focal Lesion in the Dentate Gyrus
CNS & Neurological Disorders - Drug Targets Are Selenoproteins Important for the Cancer Protective Effects of Selenium?
Current Nutrition & Food Science Therapeutic Potential of Erythropoietin in Retinal and Optic Nerve Diseases
CNS & Neurological Disorders - Drug Targets Biological Drugs in Guillain-Barré Syndrome: An Update
Current Neuropharmacology Nanoemulgel: A Promising Phase in Drug Delivery
Current Pharmaceutical Design An EJC Factor RBM8a Regulates Anxiety Behaviors
Current Molecular Medicine DREADD in Parvalbumin Interneurons of the Dentate Gyrus Modulates Anxiety, Social Interaction and Memory Extinction
Current Molecular Medicine Editorial (Thematic Issue: In vivo MRS: Techniques and Applications)
Current Molecular Imaging (Discontinued) Preparation, Characterization and in vivo Evaluation of Simple Monolithic Ethylcellulose-coated Pellets Containing Topiramate with Biphasic Release Characteristics
Current Drug Delivery