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
- Bentham Author Support Services (BASS)
- 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
-
Application of NMR Screening in Drug Discovery
Current Topics in Medicinal Chemistry Autism Spectrum Disorders: Etiology and Pharmacotherapy
Current Drug Therapy The GABA Transporter and its Inhibitors
Current Medicinal Chemistry Neurotransmitters and Chemokines Regulate Tumor Cell Migration: Potential for a New Pharmacological Approach to Inhibit Invasion and Metastasis Development
Current Pharmaceutical Design Immunological Mechanisms of Neuropsychiatric Lupus
Current Immunology Reviews (Discontinued) The Therapeutic Aspects of the Endocannabinoid System (ECS) for Cancer and their Development: From Nature to Laboratory
Current Pharmaceutical Design Automated Planar Electrode Electrophysiology in Drug Discovery: Examples of the Use of QPatch in Basic Characterization and High Content Screening on Nav, KCa2.3, and Kv11.1 Channels
Combinatorial Chemistry & High Throughput Screening Computational Drug Repositioning: A Lateral Approach to Traditional Drug Discovery?
Current Topics in Medicinal Chemistry Ligand based Drug Design of New Heterocyclic Imines of GABA Analogues: A Molecular Docking Approach for the Discovery of New GABA-AT Inhibitors
Central Nervous System Agents in Medicinal Chemistry Talking to the Synapse: How Antidepressants Can Target Glial Cells to Reshape Brain Circuits
Current Drug Targets Fetal Programming of the Human Brain: Is there a Link with Insurgence of Neurodegenerative Disorders in Adulthood?
Current Medicinal Chemistry Computational Study and Synthesis of a New Class of Anticonvulsants with 6 Hz Psychomotor Seizure Test Activity: 2-(1,3-benzodioxol-5-yloxy)- N'-[substituted]-acetohydrazides
Medicinal Chemistry Current Updates in Transdermal Therapeutic Systems and Their Role in Neurological Disorders
Current Protein & Peptide Science Diabetic Gastroenteropathy: Soothe the Symptoms or Unravel a Cure?
Current Diabetes Reviews Acute Cardioembolic Cerebral Infarction: Answers to Clinical Questions
Current Cardiology Reviews Opportunities and Challenges in Nano-structure Mediated Drug Delivery: Where Do We Stand?
Current Nanomedicine Tailored Multi-Target Agents. Applications and Design Considerations
Current Pharmaceutical Design Safety Profile of the Newest Antiepileptic Drugs: A Curated Literature Review
Current Pharmaceutical Design Imaging of P-glycoprotein Function and Expression to Elucidate Mechanisms of Pharmacoresistance in Epilepsy
Current Topics in Medicinal Chemistry Evaluation of Current Pharmacological Treatment Options in the Management of Rett Syndrome: From the Present to Future Therapeutic Alternatives.
Current Clinical Pharmacology