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https://www.readbyqxmd.com/read/27123475/analysis-of-rare-copy-number-variation-in-absence-epilepsies
#1
Laura Addis, Richard E Rosch, Antonio Valentin, Andrew Makoff, Robert Robinson, Kate V Everett, Lina Nashef, Deb K Pal
OBJECTIVE: To identify shared genes and pathways between common absence epilepsy (AE) subtypes (childhood absence epilepsy [CAE], juvenile absence epilepsy [JAE], and unclassified absence epilepsy [UAE]) that may indicate common mechanisms for absence seizure generation and potentially a diagnostic continuum. METHODS: We used high-density single-nucleotide polymorphism arrays to analyze genome-wide rare copy number variation (CNV) in a cohort of 144 children with AEs (95 CAE, 26 UAE, and 23 JAE)...
April 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/26886358/progress-from-genome-wide-association-studies-and-copy-number-variant-studies-in-epilepsy
#2
Costin Leu, Antonietta Coppola, Sanjay M Sisodiya
PURPOSE OF REVIEW: The pace of gene discovery in epilepsy remains frenetic. Although most recent discoveries have come from next-generation sequencing studies, there has also been important progress using more established methodologies, such as genome-wide association studies (GWASs) and copy number variants (CNVs) identified through array-based techniques. Progress in these areas over the last year is reviewed. RECENT FINDINGS: The first meta-analysis of GWASs was a landmark development for the epilepsy community, though more sizeable studies are sorely needed...
April 2016: Current Opinion in Neurology
https://www.readbyqxmd.com/read/26658876/mouse-model-of-chromosome-15q13-3-microdeletion-syndrome-demonstrates-features-related-to-autism-spectrum-disorder
#3
Jeffrey H Kogan, Adam K Gross, Robert E Featherstone, Rick Shin, Qian Chen, Carrie L Heusner, Megumi Adachi, Amy Lin, Noah M Walton, Sosuke Miyoshi, Shinichi Miyake, Katsunori Tajinda, Hiroyuki Ito, Steven J Siegel, Mitsuyuki Matsumoto
UNLABELLED: The chromosome 15q13.3 microdeletion is a pathogenic copy number variation conferring epilepsy, intellectual disability, schizophrenia, and autism spectrum disorder (ASD). We generated mice carrying a deletion of 1.2 Mb homologous to the 15q13.3 microdeletion in human patients. Here, we report that mice with a heterozygous deletion on a C57BL/6 background (D/+ mice) demonstrated phenotypes including enlarged/heavier brains (macrocephaly) with enlarged lateral ventricles, decreased social interactions, increased repetitive grooming behavior, reduced ultrasonic vocalizations, decreased auditory-evoked gamma band EEG, and reduced event-related potentials...
December 9, 2015: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/26625664/myoclonic-astatic-epilepsy-in-a-patient-with-a-de-novo-4q21-22q21-23-microduplication
#4
V Ottaviani, A Bartocci, M Pantaleo, S Giglio, M Cecconi, A Verrotti, G Merla, G Stangoni, P Prontera
Myoclonicastatic epilepsy (MAE) is a rare form of symptomatic generalized epilepsy of uncertain etiology. To search the possible genetic basis of the disorder, here we investigate a 15 year-old patient with MAE, who is the only person presenting epilepsy in the family. High resolution array-CGH analysis was conducted on DNA extracted from peripheral blood of the patient and the parents. The copy number variant(s) (CNVs) identified were further confirmed by Fluorescent In Situ Hybridization (FISH). The array-CGH identified a de novo microduplication of about 778 Kb in the chromosome region 4q21...
2015: Genetic Counseling
https://www.readbyqxmd.com/read/26421275/genomic-copy-number-variation-affecting-genes-involved-in-the-cell-cycle-pathway-implications-for-somatic-mosaicism
#5
Ivan Y Iourov, Svetlana G Vorsanova, Maria A Zelenova, Sergei A Korostelev, Yuri B Yurov
Somatic genome variations (mosaicism) seem to represent a common mechanism for human intercellular/interindividual diversity in health and disease. However, origins and mechanisms of somatic mosaicism remain a matter of conjecture. Recently, it has been hypothesized that zygotic genomic variation naturally occurring in humans is likely to predispose to nonheritable genetic changes (aneuploidy) acquired during the lifetime through affecting cell cycle regulation, genome stability maintenance, and related pathways...
2015: International Journal of Genomics
https://www.readbyqxmd.com/read/26275332/copy-number-variants-associated-with-epilepsy-from-gene-expression-microarrays
#6
Dong Wang, Xia Li, Shanshan Jia, Yan Wang, Zhijing Wang, Xixiao Song, Liang Liu
We aimed to identify novel copy number variations (CNV) that might contribute to the pathogenesis of epilepsy. Epilepsy is a common brain disorder characterized by recurring seizures and various serious comorbidities, including respiratory, cardiovascular, and neurologic dysfunction. CNV have recently been considered as important risk factors for epilepsy. With public gene expression data from brain tissue of 23 epilepsy patients and 23 healthy controls, we detected CNV using the R language package CAFÉ. Real-time quantitative polymerase chain reaction validation was performed in a further nine patients and 10 controls...
December 2015: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/25923336/genome-wide-analysis-of-novel-copy-number-variations-duplications-deletions-of-different-epileptic-patients-in-saudi-arabia
#7
Muhammad Imran Naseer, Muhammad Faheem, Adeel G Chaudhary, Taha A Kumosani, Maha Mohsin Al-Quaiti, Mohammed M Jan, Hasan Saleh Jamal, Mohammad H Al-Qahtani
BACKGROUND: Epilepsy is genetically complex neurological disorder affecting millions of people of different age groups varying in its type and severity. Copy number variants (CNVs) are key players in the genetic etiology of numerous neurodevelopmental disorders and prior findings also revealed that chromosomal aberrations are more susceptible against the pathogenesis of epilepsy. Novel technologies, such as array comparative genomic hybridization (array-CGH), may help to uncover the pathogenic CNVs in patients with epilepsy...
2015: BMC Genomics
https://www.readbyqxmd.com/read/25921748/array-comparative-genomic-hybridization-analysis-of-a-cohort-of-saudi-patients-with-epilepsy
#8
Muhammad Faheem, Muhammad I Naseer, Adeel G Chaudhary, Taha A Kumosani, Mahmood Rasool, Hussein A Algahtani, Fehmida Bibi, Mohammad A Kamal, Mohammad H Al-Qahtani
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...
2015: CNS & Neurological Disorders Drug Targets
https://www.readbyqxmd.com/read/25776725/genome-wide-analysis-of-novel-copy-number-variations-duplications-deletions-of-different-epileptic-patients-in-saudi-arabia
#9
Muhammad Imran Naseer, Muhammad Faheem, Adeel G Chaudhary, Taha A Kumosani, Maha Mohsin Al-Quaiti, Mohammed M Jan, Hasan Saleh Jamal, Mohammad H Al-Qahtani
BACKGROUND: Epilepsy is genetically complex neurological disorder affecting millions of people of different age groups varying in its type and severity. Copy number variants (CNVs) are key players in the genetic etiology of numerous neurodevelopmental disorders and prior findings also revealed that chromosomal aberrations are more susceptible against the pathogenesis of epilepsy. Novel technologies, such as array comparative genomic hybridization (array-CGH), may help to uncover the pathogenic CNVs in patients with epilepsy...
December 2015: BMC Genomics
https://www.readbyqxmd.com/read/25726360/rare-structural-genetic-variation-in-human-prion-diseases
#10
Ana Lukic, James Uphill, Craig A Brown, John Beck, Mark Poulter, Tracy Campbell, Gary Adamson, Holger Hummerich, Jerome Whitfield, Claudia Ponto, Inga Zerr, Sarah E Lloyd, John Collinge, Simon Mead
Prion diseases are a diverse group of neurodegenerative conditions, caused by the templated misfolding of prion protein. Aside from the strong genetic risk conferred by multiple variants of the prion protein gene (PRNP), several other variants have been suggested to confer risk in the most common type, sporadic Creutzfeldt-Jakob disease (sCJD) or in the acquired prion diseases. Large and rare copy number variants (CNVs) are known to confer risk in several related disorders including Alzheimer's disease (at APP), schizophrenia, epilepsy, mental retardation, and autism...
May 2015: Neurobiology of Aging
https://www.readbyqxmd.com/read/25705258/concomitant-deletion-of-chromosome-16p13-11-and-triplication-of-chromosome-19p13-3-in-a-child-with-developmental-disorders-intellectual-disability-and-epilepsy
#11
Elisa Tassano, Lucia Rosaia De Santis, Maria Franca Corona, Stefano Parmigiani, Dalila Zanetti, Simona Porta, Giorgio Gimelli, Cristina Cuoco
BACKGROUND: Rare copy number variations (CNVs) are today recognized as an important cause of various neurodevelopmental disorders, including mental retardation and epilepsy. In some cases, a second CNV may contribute to a more severe clinical presentation. RESULTS: Here we describe a patient with epilepsy, mental retardation, developmental disorders, and dysmorphic features, who inherited a deletion of 16p13.11 and a triplication of 19p13.3 from his father and mother, respectively...
2015: Molecular Cytogenetics
https://www.readbyqxmd.com/read/25596525/15q11-2-microdeletion-bp1-bp2-and-developmental-delay-behaviour-issues-epilepsy-and-congenital-heart-disease-a-series-of-52-patients
#12
Clémence Vanlerberghe, Florence Petit, Valérie Malan, Catherine Vincent-Delorme, Sonia Bouquillon, Odile Boute, Muriel Holder-Espinasse, Bruno Delobel, Bénédicte Duban, Louis Vallee, Jean-Marie Cuisset, Marie-Pierre Lemaitre, Marie-Christine Vantyghem, Marie Pigeyre, Sandrine Lanco-Dosen, Ghislaine Plessis, Marion Gerard, Matthieu Decamp, Michèle Mathieu, Gilles Morin, Guillaume Jedraszak, Frédéric Bilan, Brigitte Gilbert-Dussardier, Delphine Fauvert, Joëlle Roume, Valérie Cormier-Daire, Roseline Caumes, Jacques Puechberty, David Genevieve, Pierre Sarda, Lucie Pinson, Patricia Blanchet, Nathalie Lemeur, Frenny Sheth, Sylvie Manouvrier-Hanu, Joris Andrieux
Proximal region of chromosome 15 long arm is rich in duplicons that, define five breakpoints (BP) for 15q rearrangements. 15q11.2 microdeletion between BP1 and BP2 has been previously associated with developmental delay and atypical psychological patterns. This region contains four highly-conserved and non-imprinted genes: NIPA1, NIPA2, CYFIP1, TUBGCP5. Our goal was to investigate the phenotypes associated with this microdeletion in a cohort of 52 patients. This copy number variation (CNV) was prevalent in 0...
March 2015: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/25408897/nrxn1-deletions-identified-by-array-comparative-genome-hybridisation-in-a-clinical-case-series-further-understanding-of-the-relevance-of-nrxn1-to-neurodevelopmental-disorders
#13
Sarah Curran, Joo Wook Ahn, Hannah Grayton, David A Collier, Caroline Mackie Ogilvie
BACKGROUND: Microdeletions in the NRXN1 gene have been associated with a range of neurodevelopmental disorders, including autism spectrum disorders, schizophrenia, intellectual disability, speech and language delay, epilepsy and hypotonia. RESULTS: In the present study we performed array CGH analysis on 10,397 individuals referred for diagnostic cytogenetic analysis, using a custom oligonucleotide array, which included 215 NRXN1 probes (median spacing 4.9 kb). We found 34 NRXN1 deletions (0...
2013: Journal of Molecular Psychiatry
https://www.readbyqxmd.com/read/25255310/investigation-of-15q11-q13-16p11-2-and-22q13-cnvs-in-autism-spectrum-disorder-brazilian-individuals-with-and-without-epilepsy
#14
Danielle P Moreira, Karina Griesi-Oliveira, Ana L Bossolani-Martins, Naila C V Lourenço, Vanessa N O Takahashi, Kátia M da Rocha, Eloisa S Moreira, Estevão Vadasz, Joanna Goes Castro Meira, Debora Bertola, Eoghan O' Halloran, Tiago R Magalhães, Agnes C Fett-Conte, Maria Rita Passos-Bueno
Copy number variations (CNVs) are an important cause of ASD and those located at 15q11-q13, 16p11.2 and 22q13 have been reported as the most frequent. These CNVs exhibit variable clinical expressivity and those at 15q11-q13 and 16p11.2 also show incomplete penetrance. In the present work, through multiplex ligation-dependent probe amplification (MLPA) analysis of 531 ethnically admixed ASD-affected Brazilian individuals, we found that the combined prevalence of the 15q11-q13, 16p11.2 and 22q13 CNVs is 2.1% (11/531)...
2014: PloS One
https://www.readbyqxmd.com/read/25194491/remind-me-again-what-disease-we-are-studying-a-population-genetics-genetic-analysis-and-real-data-perspective-on-why-progress-on-identifying-genetic-influences-on-common-epilepsies-has-been-so-slow
#15
REVIEW
David A Greenberg, William L Stewart
In this chapter, we will use the concepts and perspective of population genetics and genetic analysis to discuss the trends that are currently popular in the epilepsy genetics literature. We will also show that some of the recent approaches to understanding epilepsy genetics are unlikely to lead to insight into the causes of the most common epilepsies. Much effort has been directed toward very rare influences on epilepsy expression and away from approaches that could shed light on the most heritable epilepsies...
2014: Progress in Brain Research
https://www.readbyqxmd.com/read/25112510/epilepsy-beyond-the-single-nucleotide-variant-in-epilepsy-genetics
#16
COMMENT
Ingrid E Scheffer, Heather C Mefford
Copy number variants (CNVs; deletions or duplications of chromosomal regions) have emerged as an important cause of human disease. In a recent study, epilepsy could be attributed to a pathogenic CNV in 5% of patients, but understanding the implications of a CNV for an individual patient can be challenging.
September 2014: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/24828792/towards-the-identification-of-a-genetic-basis-for-landau-kleffner-syndrome
#17
Judith Conroy, Paul A McGettigan, Dara McCreary, Naisha Shah, Kevin Collins, Bronwyn Parry-Fielder, Margaret Moran, Donncha Hanrahan, Thierry W Deonna, Christian M Korff, David Webb, Sean Ennis, Sally A Lynch, Mary D King
OBJECTIVE: To establish the genetic basis of Landau-Kleffner syndrome (LKS) in a cohort of two discordant monozygotic (MZ) twin pairs and 11 isolated cases. METHODS: We used a multifaceted approach to identify genetic risk factors for LKS. Array comparative genomic hybridization (CGH) was performed using the Agilent 180K array. Whole genome methylation profiling was undertaken in the two discordant twin pairs, three isolated LKS cases, and 12 control samples using the Illumina 27K array...
June 2014: Epilepsia
https://www.readbyqxmd.com/read/24824130/6q22-1-microdeletion-and-susceptibility-to-pediatric-epilepsy
#18
Przemyslaw Szafranski, Gretchen K Von Allmen, Brett H Graham, Angus A Wilfong, Sung-Hae L Kang, Jose A Ferreira, Sheila J Upton, John B Moeschler, Weimin Bi, Jill A Rosenfeld, Lisa G Shaffer, Sau Wai Cheung, Paweł Stankiewicz, Seema R Lalani
Genomic copy-number variations (CNVs) constitute an important cause of epilepsies and other human neurological disorders. Recent advancement of technologies integrating genome-wide CNV mapping and sequencing is rapidly expanding the molecular field of pediatric neurodevelopmental disorders. In a previous study, a novel epilepsy locus was identified on 6q16.3q22.31 by linkage analysis in a large pedigree. Subsequent array comparative genomic hybridization (array CGH) analysis of four unrelated cases narrowed this region to ∼5 Mb on 6q22...
February 2015: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/24817631/intragenic-rearrangements-in-x-linked-intellectual-deficiency-results-of-a-cgh-in-a-series-of-54-patients-and-identification-of-trpc5-and-klhl15-as-potential-xlid-genes
#19
Cécile Mignon-Ravix, Pierre Cacciagli, Nancy Choucair, Cornel Popovici, Chantal Missirian, Mathieu Milh, André Mégarbané, Tiffany Busa, Sophie Julia, Nadine Girard, Catherine Badens, Sabine Sigaudy, Nicole Philip, Laurent Villard
High-resolution array comparative genomic hybridization (a-CGH) enables the detection of intragenic rearrangements, such as single exon deletion or duplication. This approach can lead to the identification of new disease genes. We report on the analysis of 54 male patients presenting with intellectual deficiency (ID) and a family history suggesting X-linked (XL) inheritance or maternal skewed X-chromosome inactivation (XCI), using a home-made X-chromosome-specific microarray covering the whole human X-chromosome at high resolution...
August 2014: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/24811917/copy-number-variation-plays-an-important-role-in-clinical-epilepsy
#20
Heather Olson, Yiping Shen, Jennifer Avallone, Beth R Sheidley, Rebecca Pinsky, Ann M Bergin, Gerard T Berry, Frank H Duffy, Yaman Eksioglu, David J Harris, Fuki M Hisama, Eugenia Ho, Mira Irons, Christina M Jacobsen, Philip James, Sanjeev Kothare, Omar Khwaja, Jonathan Lipton, Tobias Loddenkemper, Jennifer Markowitz, Kiran Maski, J Thomas Megerian, Edward Neilan, Peter C Raffalli, Michael Robbins, Amy Roberts, Eugene Roe, Caitlin Rollins, Mustafa Sahin, Dean Sarco, Alison Schonwald, Sharon E Smith, Janet Soul, Joan M Stoler, Masanori Takeoka, Wen-Han Tan, Alcy R Torres, Peter Tsai, David K Urion, Laura Weissman, Robert Wolff, Bai-Lin Wu, David T Miller, Annapurna Poduri
OBJECTIVE: To evaluate the role of copy number abnormalities detectable using chromosomal microarray (CMA) testing in patients with epilepsy at a tertiary care center. METHODS: We identified patients with International Classification of Diseases, ninth revision (ICD-9) codes for epilepsy or seizures and clinical CMA testing performed between October 2006 and February 2011 at Boston Children's Hospital. We reviewed medical records and included patients who met criteria for epilepsy...
June 2014: Annals of Neurology
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