15q13.3 microdeletions increase risk of idiopathic generalized epilepsy.
Helbig, Ingo, Mefford, Heather C, Sharp, Andrew J, Guipponi, Michel, Fichera, Marco, Franke, Andre, Muhle, Hiltrud, de Kovel, Carolien +36 more·2009·Nature Genetics
DOI 10.1038/ng.292
Cited by (550)
Items 101–200 of 550
- Genetic Copy Number Variation and General Cognitive AbilityAndrew K. MacLeod, Gail Davies, Antony Payton, Albert Tenesa, Sarah E. Harris, David C M Liewald, Xiayi Ke, Michelle Luciano, Lorna M. Lopez, Alan J. Gow et al. · 2012 · PLoS ONE
- Revealing a Brain Network Endophenotype in Families with Idiopathic Generalised EpilepsyFahmida A Chowdhury, Wessel Woldman, Thomas H. B. FitzGerald, Robert D. C. Elwes, Lina A. M. Nashef, John R. Terry, Mark Philip Richardson · 2014 · PLoS ONE
- The role of SLC 2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT 1 deficiency syndromeJan Larsen, Katrine M. Johannesen, Jakob Ek, Shan S. Tang, Carla Marini, Susanne Blichfeldt, Maria Kibæk, Sarah von Spiczak, Sarah Weckhuysen, Mimoza Frangu et al. · 2015 · Epilepsia
- Recurrent Distal 7q11.23 Deletion Including HIP1 and YWHAG Identified in Patients with Intellectual Disabilities, Epilepsy, and Neurobehavioral ProblemsMelissa B. Ramocki, Magdalena Bartnik, Przemysław Szafrański, Katarzyna E. Kołodziejska, Zhilian Xia, Jaclyn Bravo, G. Steve Miller, Diana L. Rodríguez, Charles A. Williams, Patricia I. Bader et al. · 2010 · The American Journal of Human Genetics
- Genetic generalized epilepsiesSaul Alator Mullen, Samuel Frank Berkovic, the ILAE Genetics Commission · 2018 · Epilepsia
- Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised EpilepsiesDennis Lal, Ann‐Kathrin Ruppert, Holger Trucks, Herbert Schulz, Carolien G. F. de Kovel, Dorothée G.A. Kasteleijn-Nolst Trenité, Anja C. M. Sonsma, Bobby P.C. Koeleman, Dick Lindhout, Yvonne G. Weber et al. · 2015 · PLoS Genetics
- Genetic Landscape of Common Epilepsies: Advancing towards Precision in TreatmentSarita Thakran, Debleena Guin, Pooja Singh, Priyanka Singh, Samiksha Kukal, Chitra Rawat, Saroj Yadav, Suman S. Kushwaha, Achal Kumar Srivastava, Yasha Hasija et al. · 2020 · International Journal of Molecular Sciences
- De Novo Rates and Selection of Schizophrenia-Associated Copy Number VariantsRees, Elliott, Moskvina, Valentina, Owen, Michael J., O'Donovan, Michael C., Kirov, George · 2011 · Biological Psychiatry
- The genomics of schizophrenia: update and implicationsPaola Giusti‐Rodríguez, Patrick F. Sullivan · 2013 · Journal of Clinical Investigation
- The role of genetic testing in epilepsy diagnosis and managementY. Weber, S. Biskup, K. Helbig, S. von Spiczak, H. Lerche · 2017 · Expert Review of Molecular Diagnostics
- Nicotinic acetylcholine receptors in human genetic diseaseChristian Patrick Schaaf · 2014 · Genetics in Medicine
- Primer Part 1—The building blocks of epilepsy geneticsIngo Helbig, Erin L. Heinzen, Heather C. Mefford, the ILAE Genetics Commission · 2016 · Epilepsia
- A structural look at GABAA receptor mutations linked to epilepsy syndromesCiria C. Hernández, Robert L. Macdonald · 2019 · Brain Research
- Familial mesial temporal lobe epilepsy: a benign epilepsy syndrome showing complex inheritanceDouglas Ewan Crompton, Ingrid Eileen Scheffer, I Taylor, Mark James Cook, Penelope A McKelvie, Danya F. Vears, K. M. Lawrence, Jacinta M. McMahon, Bronwyn E. Grinton, Anne M. McIntosh et al. · 2010 · Brain
- Epi4K: Gene discovery in 4,000 genomesThe Epi4K Consortium · 2012 · Epilepsia
- Syndromic autism: causes and pathogenetic pathwaysArianna Benvenuto, Romina Moavero, Riccardo Alessandrelli, Barbara Manzi, Paolo Curatolo · 2009 · World Journal of Pediatrics
- Genetic evaluation and counseling for epilepsyDeb K. Pal, Amanda W. Pong, Wendy K. Chung · 2010 · Nature Reviews Neurology
- Pharmaco-genetically guided treatment of recurrent rage outbursts in an adult male with 15q13.3 deletion syndromeJoseph F. Cubells, Elizabeth H. DeOreo, Philip D. Harvey, Steven J. Garlow, Kathryn B. Garber, Margaret P Adam, Christa Lese Martin · 2011 · American Journal of Medical Genetics Part A
- Ohnologs are overrepresented in pathogenic copy number mutationsAoife McLysaght, Takashi Makino, Hannah M. Grayton, Maria Tropeano, Kevin J. Mitchell, Evangelos Vassos, David Andrew Collier · 2013 · Proceedings of the National Academy of Sciences
- A genetic model for neurodevelopmental diseaseBradley P. Coe, Santhosh Girirajan, Evan E. Eichler · 2012 · Current Opinion in Neurobiology
- Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control studyPatrick May, Simon Girard, Merle Harrer, Dheeraj Reddy Bobbili, Julian Schubert, Stefan Wolking, Felicitas Becker, Pamela Lachance‐Touchette, Caroline Meloche, Micheline Gravel et al. · 2018 · The Lancet Neurology
- The Utility of Chromosomal Microarray Analysis in Developmental and Behavioral PediatricsArthur L. Beaudet · 2013 · Child Development
- Independent estimation of the frequency of rare CNVs in the UK population confirms their role in schizophreniaDetelina Grozeva, Donald F. Conrad, Chris P. Barnes, Matthew E. Hurles, Michael John Owen, Michael C. O’Donovan, Nick J. Craddock, George Kirov · 2011 · Schizophrenia Research
- Hunting human disease genes: lessons from the past, challenges for the futureLiam R. Brunham, Michael R. Hayden · 2013 · Human Genetics
- Epilepsy associated with autism and attention deficit hyperactivity disorder: Is there a genetic link?Adriana Lo‐Castro, Paolo Curatolo · 2013 · Brain and Development
- Impaired cognitive function in idiopathic generalized epilepsy and unaffected family members: An epilepsy endophenotypeFahmida A Chowdhury, Robert D. C. Elwes, Michael Koutroumanidis, Robin G. Morris, Lina A. M. Nashef, Mark Philip Richardson · 2014 · Epilepsia
- Autism genetics: emerging data from genome-wide copy-number and single nucleotide polymorphism scansLauren A. Weiss · 2009 · Expert Review of Molecular Diagnostics
- The emerging spectrum of allelic variation in schizophrenia: current evidence and strategies for the identification and functional characterization of common and rare variantsBryan J. Mowry, Jacob Gratten · 2012 · Molecular Psychiatry
- Segmental duplications mediate novel, clinically relevant chromosome rearrangementsM. Katharine Rudd, Julia A. Keene, Brian P. Bunke, Erin B. Kaminsky, Margaret P Adam, Jennifer G. Mullé, David H. Ledbetter, Christa L. Martin · 2009 · Human Molecular Genetics
- The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 DuplicationsMadelyn A. Gillentine, Leandra N. Berry, Robin P. Goin‐Kochel, M. A. Ali, Jun Ge, Danielle Guffey, Jill Anne Rosenfeld, Vickie Hannig, Patricia I. Bader, Monica B. Proud et al. · 2016 · Journal of Autism and Developmental Disorders
- Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjectsLisa‐Marie Niestroj, Eduardo Pérez‐Palma, Daniel P. Howrigan, Yadi Zhou, Feixiong Cheng, Elmo Saarentaus, Peter Nürnberg, Remi Stevelink, Mark J. Daly, Aarno V. Palotie et al. · 2020 · Brain
- Epilepsy and the frontal lobesJonathan O’Muircheartaigh, Mark Philip Richardson · 2011 · Cortex
- Genetics of epilepsyLata Vadlamudi, Roger Laughlin Milne, Kate Lawrence, Sarah E. Heron, Jazmin Eckhaus, Deborah Keay, Mary M. Connellan, Yvonne Torn‐Broers, R. Anne Howell, John C. Mulley et al. · 2014 · Neurology
- Expression of autism spectrum and schizophrenia in patients with a 22q11.2 deletionJacob A. S. Vorstman, Elemi Breetvelt, Kirstin I. Thode, Eva W.C. Chow, Anne S. Bassett · 2012 · Schizophrenia Research
- Genetic architecture of reciprocal CNVsChristelle Golzio, Nicholas Katsanis · 2013 · Current Opinion in Genetics & Development
- A novel X‐linked disorder with developmental delay and autistic featuresNamik Kaya, Dilek Çolak, Albandary AlBakheet, Mohammad Al-Owain, Nada AbuDheim, Banan Al‐Younes, Jawaher Al‐Zahrani, Nahit Motavallı Mukaddes, Ayşın Dervent, Naji Aldosari et al. · 2011 · Annals of Neurology
- Idiopathic focal epilepsies: the “lost tribe”Deb K. Pal, Colin D. Ferrie, Laura Addis, Tomoyuki Akiyama, Giuseppe Capovilla, Roberto Horacio Caraballo, Anne de Saint Martin, Natalio Fejerman, Renzo Guerrini, Khalid Hamandi et al. · 2016 · Epileptic Disorders
- Modulating Neuroinflammation to Treat Neuropsychiatric DisordersFranziska Radtke, Gareth Chapman, Jérémy Hall, Yasir Ahmed Syed · 2017 · BioMed Research International
- A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN 2A and PRRT 2S. Dimassi, Audrey Labalme, Gaëtan Lesca, Gabrielle Rudolf, Nadine Bruneau, Édouard Hirsch, Alexis A. Arzimanoglou, Jacques E. Motte, Anne de Saint Martin, Nadia Boutry‐Kryza et al. · 2013 · Epilepsia
- New findings in the genetics of major psychosesMarkus Maria Nöthen, Vanessa Nieratschker, Sven Cichon, Marcella Rietschel · 2010 · Dialogues in Clinical Neuroscience
- Dynamic brain network states in human generalized spike-wave dischargesChayanin Tangwiriyasakul, Suejen Perani, María Centeno, Siti N. Yaakub, Eugenio Abela, David William Carmichael, Mark Philip Richardson · 2018 · Brain
- Imprinting regulates mammalian snoRNA-encoding chromatin decondensation and neuronal nucleolar sizeKaren Leung, Roxanne O. Vallero, Amanda J. DuBose, James L. Resnick, Janine M. LaSalle · 2009 · Human Molecular Genetics
- Differential contribution of genetic variation in multiple brain nicotinic cholinergic receptors to nicotine dependence: recent progress and emerging open questionsLior Greenbaum, Bernard Lerer · 2009 · Molecular Psychiatry
- Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concernsCurtis R. Coughlin, Gunter H. Scharer, Tamim H. Shaikh · 2012 · Genome Medicine
- Mechanisms of Epileptogenesis in Pediatric Epileptic Syndromes: Rasmussen Encephalitis, Infantile Spasms, and Febrile Infection-related Epilepsy Syndrome (FIRES)Carlos A. Pardo, Rima Nabbout, Aristea S. Galanopoulou · 2014 · Neurotherapeutics
- Genetics of schizophreniaElliott Rees, Michael C. O’Donovan, Michael John Owen · 2014 · Current Opinion in Behavioral Sciences
- Allosteric alpha-7 nicotinic receptor modulation and P50 sensory gating in schizophrenia: A proof-of-mechanism studyGeorg Winterer, Jürgen Gallinat, Jürgen Brinkmeyer, Francesco Musso, Johannes Kornhuber, Norbert Thuerauf, Dan Rujescu, Reyna Favis, Yu Sun, Monique A. Franc et al. · 2012 · Neuropharmacology
- Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular eraAnne S. Bassett, Gregory Costain · 2012 · The Application of Clinical Genetics
- Schizophrenia genetics: new insights from new approachesHywel J. Williams, M J Owen, Michael C. O’Donovan · 2009 · British Medical Bulletin
- Epigenetic genes and epilepsy — emerging mechanisms and clinical applicationsVan Loo, Karen M. J., Carvill, Gemma L., Becker, Albert J., Conboy, Karen, Goldman, Alica M., Kobow, Katja, Lopes-Cendes, Iscia, Reid, Christopher A., van Vliet, Erwin A., Henshall, David C. · 2022 · Nature Reviews Neurology
- Disentangling the Myriad Genomics of Complex Disorders, Specifically Focusing on Autism, Epilepsy, and SchizophreniaMartin Poot, Jasper J. van der Smagt, Eva H. Brilstra, Thomas Bourgeron · 2011 · Cytogenetic and Genome Research
- Genetics of schizophrenia: A consensus paper of the WFSBP Task Force on GeneticsIna Giegling, Ladislav Hosák, Rainald Mößner, Alessandro Serretti, Frank Bellivier, Stephan J. Claes, David Andrew Collier, Alejo Corrales, Lynn E. DeLisi, Carla Gallo et al. · 2017 · The World Journal of Biological Psychiatry
- Clinical Significance of Rare Copy Number Variations in EpilepsyPasquale Striano · 2011 · Archives of Neurology
- Epilepsy and the new cytogeneticsJohn C. Mulley, Heather C. Mefford · 2011 · Epilepsia
- 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsyEva Maria Reinthaler, Dennis Lal, Sébastien Lebon, Michael S. Hildebrand, Hans‐Henrik M. Dahl, Brigid M. Regan, Martha Feucht, Hannelore Steinböck, Birgit Neophytou, Gabriel M. Ronen et al. · 2014 · Human Molecular Genetics
- HomozygosityMapper2012--bridging the gap between homozygosity mapping and deep sequencingDominik Seelow, Markus Schuelke · 2012 · Nucleic Acids Research
- Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsyDennis Lal, Holger Trucks, Rikke Steensbjerre Møller, Helle Hjalgrim, Bobby P.C. Koeleman, Carolien G. F. de Kovel, Frank Visscher, Yvonne G. Weber, Holger Lerche, Felicitas Becker et al. · 2013 · Epilepsia
- Exon‐disrupting deletions of NRXN1 in idiopathic generalized epilepsyRikke Steensbjerre Møller, Yvonne G. Weber, Laura Line Klitten, Holger Trucks, Hiltrud Muhle, Wolfram S. Kunz, Heather C. Mefford, Andre Franke, Monika Kautza, Peter Wolf et al. · 2013 · Epilepsia
- Copy number variant analysis from exome data in 349 patients with epileptic encephalopathyEpilepsy Phenome/Genome Project & Epi4K Consortium · 2015 · Annals of Neurology
- High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsyLarissa R Stewart, April L. Hall, Sung-Hae Lee Kang, Chad A. Shaw, Arthur L. Beaudet · 2011 · BMC Medical Genetics
- The phenotype of recurrent 10q22q23 deletions and duplicationsBregje W.M. van Bon, Jorune Balciuniene, Gary Fruhman, Sandesh C. Sreenath Nagamani, Diane L. Broome, Elizabeth Cameron, Danielle Martinet, Eliane Roulet, Sébastien Jacquemont, Jacques Samuel Beckmann et al. · 2011 · European Journal of Human Genetics
- Current understanding of human genetics and genetic analysis of psoriasisAkira Oka, Tomotaka Mabuchi, Akira OZAWA, Hidetoshi Inoko · 2012 · The Journal of Dermatology
- Disorders and borders: Psychiatric genetics and nosologyJordan W. Smoller · 2013 · American Journal of Medical Genetics Part B Neuropsychiatric Genetics
- Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric PatientsAna Fernández Marmiesse, Iria Roca, Felícitas Díaz-Flores, Verónica Cantarín, Ma Socorro Pérez-Poyato, Ana Fontalba, Francisco Laranjeira, Sofia Quintans, Oana Moldovan, Blanca Felgueroso et al. · 2019 · Frontiers in Neuroscience
- Voltage-gated calcium channels in the etiopathogenesis and treatment of absence epilepsyMarco Weiergräber, Ulrich Stephani, Rüdiger Köhling · 2009 · Brain Research Reviews
- Magnetoencephalography Reveals a Widespread Increase in Network Connectivity in Idiopathic/Genetic Generalized EpilepsyAdham Elshahabi, Silke Klamer, Ashish Kaul Sahib, Holger Lerche, Christoph Braun, Niels K. Focke · 2015 · PLoS ONE
- Mouse Model of Chromosome 15q13.3 Microdeletion Syndrome Demonstrates Features Related to Autism Spectrum DisorderKogan, Jeffrey H., Gross, Adam K., Featherstone, Robert E., Shin, Rick, Chen, Qian, Heusner, Carrie L., Adachi, Megumi, Lin, Amy, Walton, Noah M., Miyoshi, Sosuke et al. · 2015 · The Journal of Neuroscience
- Bringing machine learning to research on intellectual and developmental disabilities: taking inspiration from neurological diseasesChirag Gupta, Pramod Bharadwaj Chandrashekar, Ting Jin, Chenfeng He, Saniya Khullar, Qiang Chang, Daifeng Wang · 2022 · Journal of Neurodevelopmental Disorders
- Genetics of SchizophreniaEscudero, Irene, Johnstone, Mandy · 2014 · Current Psychiatry Reports
- Cortical synaptic NMDA receptor deficits in α7 nicotinic acetylcholine receptor gene deletion models: Implications for neuropsychiatric diseasesHong Lin, Fu‐Chun Hsu, Bailey H. Baumann, Douglas A. Coulter, David R. Lynch · 2013 · Neurobiology of Disease
- Cortical parvalbumin GABAergic deficits with α7 nicotinic acetylcholine receptor deletion: implications for schizophreniaHong Lin, Fu‐Chun Hsu, Bailey H. Baumann, Douglas A. Coulter, Stewart A. Anderson, David R. Lynch · 2014 · Molecular and Cellular Neuroscience
- Clinical spectrum of STX1B -related epileptic disordersStefan Wolking, Patrick May, Davide Mei, Rikke Steensbjerre Møller, Simona Balestrini, Katherine L. Helbig, Cecilia Desmettre Altuzarra, Nicolas Chatron, Charu Kaiwar, Katharina Stöhr et al. · 2019 · Neurology
- Dynamic changes in murine forebrain miR-211 expression associate with cholinergic imbalances and epileptiform activityUriya Bekenstein, Nibha Mishra, Dan Z. Milikovsky, Geula Hanin, Daniel Zelig, Liron Sheintuch, Amit Berson, David Greenberg, Alon Friedman, Hermona Soreq · 2017 · Proceedings of the National Academy of Sciences
- Febrile infection‐related epilepsy syndrome (FIRES) is not caused by SCN1A, POLG, PCDH19 mutations or rare copy number variationsSilke Appenzeller, Ingo Helbig, Ulrich Stephani, Martin Häusler, Gerhard Josef Kluger, May Bungeroth, Stefanie H. Mueller, Gregor Kuhlenbäumer, Andreas van Baalen · 2012 · Developmental Medicine & Child Neurology
- Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsyBorislav Dejanovic, Dennis Lal, Claudia B. Catarino, Sita Arjune, Abdel Ali Belaidi, Holger Trucks, Christian Vollmar, Rainer Surges, Wolfram S. Kunz, Susanne Motameny et al. · 2014 · Neurobiology of Disease
- Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disordersMagdalena Bartnik, Elżbieta Szczepanik, Katarzyna Derwińska, Barbara Wiśniowiecka‐Kowalnik, Tomasz Gambin, Maciej Sykulski, Kamila Ziemkiewicz, Marta Kędzior, Monika Goś, Dorota Hoffman‐Zacharska et al. · 2012 · American Journal of Medical Genetics Part B Neuropsychiatric Genetics
- A 15q13.3 homozygous microdeletion associated with a severe neurodevelopmental disorder suggests putative functions of the TRPM1, CHRNA7, and other homozygously deleted genesJean-Baptiste LePichon, Douglas C. Bittel, William David Graf, Shihui Yu · 2010 · American Journal of Medical Genetics Part A
- Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1Franziska Wielaender, Riika Sarviaho, Fiona James, Marjo K. Hytönen, Miguel A. Cortez, Gerhard Josef Kluger, Lotta L. E. Koskinen, Meharji Arumilli, Marion Kornberg, Andrea Bathen‐Nöthen et al. · 2017 · Proceedings of the National Academy of Sciences
- A genomic copy number variant analysis implicates the MBD5 and HNRNPUgenes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletionXiaonan Du, Yu An, Lifei Yu, Renchao Liu, Yanrong Qin, Xiaohong Guo, Daokan Sun, Shuizhen Zhou, Bai-Lin Wu, Yong‐hui Jiang et al. · 2014 · BMC Medical Genetics
- Chrna7 deficient mice manifest no consistent neuropsychiatric and behavioral phenotypesJiani Yin, Wu Chen, Hongxing Yang, Mingshan Xue, Christian Patrick Schaaf · 2017 · Scientific Reports
- Neuropathology of 16p13.11 Deletion in EpilepsyJoan Y. W. Liu, Dalia Kasperavičiūtė, Lillian Martinian, Maria Thom, Sanjay M. Sisodiya · 2012 · PLoS ONE
- Analysis of CHRNA7 rare variants in autism spectrum disorder susceptibilityElena Bacchelli, Agatino Battaglia, Cinzia Cameli, Silvia Lomartire, Raffaella Tancredi, Susanne A. M. Thomson, James S. Sutcliffe, Elena Maestrini · 2015 · American Journal of Medical Genetics Part A
- Update on the genetics of the epilepsy‐aphasia spectrum and role of GRIN2A mutationsGaëtan Lesca, Rikke Steensbjerre Møller, Gabrielle Rudolf, Édouard Hirsch, Helle Hjalgrim, Pierre Szepetowski · 2019 · Epileptic Disorders
- Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individualsLudovica Montanucci, David Lewis‐Smith, Ryan L. Collins, Lisa‐Marie Niestroj, Shridhar Parthasarathy, Julie Xian, Shiva Ganesan, Marie Macnee, Tobias Brünger, Rhys Huw Thomas et al. · 2023 · Nature Communications
- 15q13.3 homozygous knockout mouse model display epilepsy-, autism- and schizophrenia-related phenotypesAnnika Forsingdal, Kim Fejgin, Vibeke Nielsen, Thomas Mears Werge, Jacob Nielsen · 2016 · Translational Psychiatry
- Genetic Testing in Pediatric EpilepsyTristan T. Sands, Hyunmi Choi · 2017 · Current Neurology and Neuroscience Reports
- From next-generation sequencing to targeted treatment of non-acquired epilepsiesRikke Steensbjerre Møller, Trine Bjørg Hammer, Guido Rubboli, Johannes R. Lemke, Katrine M. Johannesen · 2019 · Expert Review of Molecular Diagnostics
- Global characterization of copy number variants in epilepsy patients from whole genome sequencingJean Monlong, Simon Girard, Caroline Meloche, Maxime Cadieux‐Dion, Danielle Molinari Andrade, Ron G. Lafrenière, Micheline Gravel, Dan Spiegelman, Alexandre Dionne‐Laporte, Cyrus G. Boelman et al. · 2018 · PLoS Genetics
- Genome-wide approaches to schizophreniaJubao Duan, Alan R. Sanders, Pablo V. Gejman · 2010 · Brain Research Bulletin
- Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotoniaVolker Endris, Karl Hackmann, Teresa Neuhann, Ute Grasshoff, Michael von Bonin, Ulrich Haug, Gabriele Hahn, Jens Schallner, Evelin Schröck, Sigrid Tinschert et al. · 2010 · American Journal of Medical Genetics Part A
- Microdeletions ofELP4Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental RetardationLaura Addis, Joo Wook Ahn, Richard Dobson, Abhishek Dixit, Caroline Mackie Ogilvie, Dalila Pinto, Andrea K. Vaags, Hilary H Coon, Pauline Chaste, Scott G. Wilson et al. · 2015 · Human Mutation
- The role of copy number variation in schizophreniaKirov, George · 2010 · Expert Review of Neurotherapeutics
- Rice structural variation: a comparative analysis of structural variation between rice and three of its closest relatives in the genus OryzaBonnie L. Hurwitz, Dave Kudrna, Yeisoo Yu, Aswathy Sebastian, Andrea Zuccolo, Scott A. Jackson, Doreen Ware, Rod A. Wing, Lincoln David Stein · 2010 · The Plant Journal
- The Epilepsy Phenome/Genome ProjectThe EPGP Collaborative, Kathleen McGovern, Nora Stillman, Kevin McKenna, Vickie M. Mays, Michael J.A. Williams, Alan Carpenter, Kevin Miller, Prashant Agarwal, Jennifer Ayala et al. · 2013 · Clinical Trials
- Epilepsy Genetics Revolutionizes Clinical PracticeI. Scheffer · 2014 · Neuropediatrics
- Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblingsMalte Spielmann, Gabriele Reichelt, Christoph Hertzberg, Marc Trimborn, Stefan Mundlos, Denise Horn, Eva Klopocki · 2011 · European Journal of Medical Genetics
- Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk?Claire Amiet, Isabelle Gourfinkel‐An, Claudine Laurent‐Levinson, Nicolas Bodeau, Bérengère Génin, Éric Leguern, Sylvie Tordjman, David Cohen · 2013 · Molecular Autism
- Nicotinic acetylcholine receptors and epilepsyAndrea Becchetti, Laura Clara Grandi, Marta Cerina, Alida Amadeo · 2023 · Pharmacological Research
- Schizophrenia genetics: progress, at lastJennifer G. Mullé · 2012 · Current Opinion in Genetics & Development
- Using C. elegans to Decipher the Cellular and Molecular Mechanisms Underlying Neurodevelopmental DisordersCarlos Bessa, Patrı́cia Maciel, Ana João Rodrigues · 2013 · Molecular Neurobiology