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 |
Call for Papers in Thematic Issues
Heart and Brain Axis Targets in CNS Neurological Disorders
Recently there has been a surge of interest in delving deeper into the complex interplay between the heart and brain. This fascination stems from a growing recognition of the profound influence each organ holds over the other, particularly in the realm of central nervous system (CNS) neurological disorders. The purpose ...read more
Lifestyle Interventions to Prevent and Treat Cognitive Impairment and Dementia
More than 55 million people live with dementia worldwide. By 2050, the population affected by dementia will exceed 139 million individuals. Mild cognitive impairment (MCI) is a pre-dementia stage, also known as prodromal dementia, affecting older adults. MCI emerges years before the manifestation of dementia but can be avoidable and ...read more
Novel Treatments in Subarachnoid Hemorrhage
The current landscape of therapeutic strategies for subarachnoid hemorrhage (SAH), a significant adverse neurological event commonly resulting from the rupture of intracranial aneurysms, is rapidly evolving. Through an in-depth exploration of the natural history of SAH, historical treatment approaches, and emerging management modalities, the present work aims to provide a ...read more
Pathogenic Proteins in Neurodegenerative Diseases: From Mechanisms to Treatment Modalities
The primary objective of this thematic issue is to elucidate the molecular mechanisms by which pathogenic proteins contribute to neurodegenerative diseases and to highlight current and emerging therapeutic strategies aimed at mitigating their effects. By bringing together cutting-edge research and reviews, this issue aims to: 1.Enhance Understanding: Provide a comprehensive ...read more
![](/images/wayfinder.jpg)
- 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
-
Structure, Pharmacology and Therapeutic Prospects of Family C G-Protein Coupled Receptors
Current Drug Targets <i>In Silico</i> Study Examining New Phenylpropanoids Targets with Antidepressant Activity
Current Drug Targets An Overview of Galenic Preparation Methods for Medicinal Cannabis
Current Bioactive Compounds The Use of <i>Cannabis</i> and Cannabinoid-based Products by Pregnant Women: A Patent Review
Recent Patents on Biotechnology Hepatoprotective Effects and Antioxidant Potential of Polyherbal Formulation Against CCl4- Induced Hepatic Injury in Albino Rats
Current Traditional Medicine PET and SPECT Radiotracers to Assess Function and Expression of ABC Transporters In Vivo
Current Drug Metabolism Pharmacological Characterization of Ligands at Recombinant NMDA Receptor Subtypes by Electrophysiological Recordings and Intracellular Calcium Measurements
Combinatorial Chemistry & High Throughput Screening Rational Drug Design and the Discovery of the Δ2-1,2,3-Triazolines, A Unique Class of Anticonvulsant and Antiischemic Agents
Current Medicinal Chemistry Targeting Bacterial Metalloenzymes: A New Strategy for the Development of Anti-Infective Agents
Anti-Infective Agents in Medicinal Chemistry Imidazole Incorporated Semicarbazone Derivatives as a New Class of Anticonvulsants: Design, Synthesis and In-Vivo Screening
Medicinal Chemistry Current Phthalocyanines Delivery Systems in Photodynamic Therapy: An Updated Review
Current Medicinal Chemistry Neuropathic Pain and Lung Delivery of Nanoparticulate Drugs: An Emerging Novel Therapeutic Strategy
CNS & Neurological Disorders - Drug Targets Which Dose of Folic Acid Should Pregnant Diabetic Women Receive?
Recent Patents on Endocrine, Metabolic & Immune Drug Discovery (Discontinued) Effectiveness and Safety of Lacosamide, A Third-generation Anti-seizure Medication, for Poststroke Seizure and Epilepsy: A Literature Review
Current Neuropharmacology Novel Kynurenic Acid Analogues in the Treatment of Migraine and Neurodegenerative Disorders: Preclinical Studies and Pharmaceutical Design
Current Pharmaceutical Design Preface [Hot topic: Potential Therapeutic Agents for Parkinsons Disease (Executive Editor: Masato Asanuma)]
Current Pharmaceutical Design Natural Products Based Ayurvedic Formulations: Chemical Cons tituents and Treatment in Neurodegenerative Disordersǂ
Mini-Reviews in Organic Chemistry Reducing Gabaergic Inhibition Restores Cognitive Functions in a Mouse Model of Down Syndrome
CNS & Neurological Disorders - Drug Targets Role of Quercetin in the Mitigation of Lindane Induced Toxicity in Terms of Oxidative Responses and Metabolic Status in Mice Brain
Current Bioactive Compounds Nonconvulsive (Dialeptic) Status Epilepticus in Children
Current Pediatric Reviews