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 201–300 of 550
- A mouse model of the 15q13.3 microdeletion syndrome shows prefrontal neurophysiological dysfunctions and attentional impairmentSimon R. O. Nilsson, Pau Celada, Kim Fejgin, Jonas Thelin, Jacob Nielsen, Noemí Santana, Christopher J. Heath, Peter H. Larsen, Vibeke Nielsen, Brianne A. Kent et al. · 2016 · Psychopharmacology
- What do genetic studies tell us about the heritable basis of common epilepsy? Polygenic or complex epilepsy?Bobby P.C. Koeleman · 2017 · Neuroscience Letters
- Inherited Epilepsy in DogsKari J. Ekenstedt, Anita M. Oberbauer · 2013 · Topics in companion animal medicine
- ILAE-Klassifikation der Epilepsien: Positionspapier der ILAE-Kommission für Klassifikation und TerminologieIngrid Eileen Scheffer, Samuel Frank Berkovic, G. Capovilla, Mary B. Connolly, Jacqueline A. French, Laura Maria de Figueiredo Ferreira Guilhoto, Édouard Hirsch, Satish Jain, Gary W. Mathern, Solomon L. Moshé et al. · 2018 · Clinical Epileptology
- Genetic insight of schizophrenia: past and future perspectivesShweta Singh, Ashok Kumar, Sarita Agarwal, Shubha Rajendra Phadke, Yamini Jaiswal · 2013 · Gene
- Genetic Causes of Generalized EpilepsiesIngo Helbig · 2015 · Seminars in Neurology
- Microdeletion syndromesGemma L. Carvill, Heather C. Mefford · 2013 · Current Opinion in Genetics & Development
- The Epilepsy Genetic Association Database (epiGAD): Analysis of 165 genetic association studies, 1996–2008Nigel CK Tan, Samuel Frank Berkovic · 2010 · Epilepsia
- Analysis of genetic deletions and duplications in the University College London bipolar disorder case control sampleMcQuillin, Andrew, Bass, Nicholas, Anjorin, Adebayo, Lawrence, Jacob, Kandaswamy, Radhika, Lydall, Greg, Moran, Jennifer, Sklar, Pamela, Purcell, Shaun, Gurling, Hugh · 2011 · European Journal of Human Genetics
- The Genetics of Eating DisordersSietske G. Helder, David Andrew Collier · 2010 · Current topics in behavioral neurosciences
- Blinders, phenotype, and fashionable genetic analysis: A critical examination of the current state of epilepsy genetic studiesDavid A. Greenberg, Ryan L. Subaran · 2011 · Epilepsia
- CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigreeClaudia Soler‐Alfonso, Claudia M.B. Carvalho, Jun Ge, Erin K. Roney, Patricia I. Bader, Katarzyna E. Kołodziejska, Rachel M Miller, James R. Lupski, Paweł Stankiewicz, Sau Wai Cheung et al. · 2014 · European Journal of Human Genetics
- Prediction by Modeling That Epilepsy May Be Caused by Very Small Functional Changes in Ion ChannelsEvan A. Thomas, Christopher A. Reid, Samuel Frank Berkovic, Steven Petrou · 2009 · Archives of Neurology
- Genetic contribution to common epilepsiesSanjay M. Sisodiya, Heather C. Mefford · 2011 · Current Opinion in Neurology
- Increased de novo copy number variants in the offspring of older malesTraute Flatscher‐Bader, Claire J. Foldi, Suyinn Chong, E. Whitelaw, R J Moser, Thomas H.J. Burne, Darryl Walter Eyles, John Joseph McGrath · 2011 · Translational Psychiatry
- An emerging role for Wnt and GSK3 signaling pathways in schizophreniaKarun Kar Singh · 2013 · Clinical Genetics
- Genotype to phenotype—discovery and characterization of novel genomic disorders in a “genotype-first” eraHeather C. Mefford · 2009 · Genetics in Medicine
- Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discoveryKaren L. Oliver, Colin A. Ellis, Ingrid Eileen Scheffer, Shiva Ganesan, Costin Leu, Lynette Grant Sadleir, Erin L. Heinzen, Heather C. Mefford, Andrew J. Bass, Sarah W. Curtis et al. · 2022 · EBioMedicine
- Copy number variants in adult patients with Lennox–Gastaut syndrome featuresCaroline Lund, Eylert Brodtkorb, Oddveig Røsby, Olaug Kristin Rødningen, Kaja Kristine Selmer · 2013 · Epilepsy Research
- Heredity in epilepsy: Neurodevelopment, comorbidity, and the neurological traitMichael R. Johnson, Simon D. Shorvon · 2011 · Epilepsy & Behavior
- A small homozygous microdeletion of 15q13.3 including the CHRNA7 gene in a girl with a spectrum of severe neurodevelopmental featuresJun Liao, Stephanie J. DeWard, Suneeta Madan‐Khetarpal, Urvashi Surti, Jie Hu · 2011 · American Journal of Medical Genetics Part A
- Juvenile polyposis and other intestinal polyposis syndromes with microdeletions of chromosome 10q22–23FS Dahdaleh, J.C. Carr, Daniel Calva, James R. Howe · 2011 · Clinical Genetics
- Reduced Chrna7 expression in mice is associated with decreases in hippocampal markers of inhibitory function: implications for neuropsychiatric diseasesC.E. Adams, Joan C. Yonchek, Kalynn M. Schulz, Sharon Louise Graw, Jerry A. Stitzel, Patricia U. Teschke, Karen E. Stevens · 2012 · Neuroscience
- Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani–Lenz-like non-syndromic oligosyndactylyBoyan Ivanov Dimitrov, Thierry Voet, Luc DE SMET, Joris Robert Vermeesch, Koen Devriendt, J. P. Fryns, Philippe Debeer · 2010 · Journal of Medical Genetics
- NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsyYuwu Jiang, Yuehua Zhang, Pingping Zhang, Tian Sang, Feng Zhang, Taoyun Ji, Qionghui Huang, Han Xie, Renqian Du, Bin Cai et al. · 2012 · Human Genetics
- Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsyAnnick Salzmann, Michel Guipponi, Peter J. Lyons, Lloyd D. Fricker, Matthew R. Sapio, Carmen Lambercy, Catherine Burési, Bouchra Ouled Amar Bencheikh, Fatiha Lahjouji, Réda Ouazzani et al. · 2011 · Human Mutation
- Whole genome association studies in complex diseases: where do we stand?Anna C. Need, David B. Goldstein · 2010 · Dialogues in Clinical Neuroscience
- Common recurrent microduplication syndromes: Diagnosis and management in clinical practiceJonathan S. Berg, Lorraine Potocki, Carlos A. Bacino · 2010 · American Journal of Medical Genetics Part A
- Alpha-7 Nicotinic Receptors in Nervous System Disorders: From Function to Therapeutic PerspectivesAntonella De Jaco, Laura Bernardini, Jessica Diana Rosati, Ada Maria Tata · 2016 · Central Nervous System Agents in Medicinal Chemistry
- Nicotine Elicits Convulsive Seizures by Activating Amygdalar NeuronsHigor Alves Iha, Naofumi Kunisawa, Saki Shimizu, Kentaro Tokudome, Takahiro Mukai, Masato Kinboshi, Akio Ikeda, Hidefumi Ito, Tadao Serikawa, Yukihiro Ohno · 2017 · Frontiers in Pharmacology
- 15q11.2 proximal imbalances associated with a diverse array of neuropsychiatric disorders and mild dysmorphic featuresAbdelmoity, Ahmed T., LePichon, Jean-Baptiste, Nyp, Sarah S., Soden, Sarah E., Daniel, Carol A., Yu, Shihui · 2012 · Journal of Developmental & Behavioral Pediatrics
- Rare copy number variants in neuropsychiatric disorders: Specific phenotype or not?Maarten J. A. Van Den Bossche, Mandy Johnstone, Mojca Stražišar, Ben S. Pickard, Dirk Goossens, An‐Sofie Lenaerts, Sonia De Zutter, Annelie Nordin, Karl‐Fredrik Norrback, Julien Mendlewicz et al. · 2012 · American Journal of Medical Genetics Part B Neuropsychiatric Genetics
- Progress in unraveling the genetic etiology of rolandic epilepsyWeixi Xiong, Dong Zhou · 2017 · Seizure
- Genetically complex epilepsies, copy number variants and syndrome constellationsHeather C. Mefford, John C. Mulley · 2010 · Genome Medicine
- A Systems Biology Approach for Personalized Medicine in Refractory EpilepsyGiuseppina Daniela Naimo, Maria Guarnaccia, Teresa Sprovieri, Carmine Ungaro, Francesca Luisa Conforti, Sebastiano Andò, Sebastiano Cavallaro · 2019 · International Journal of Molecular Sciences
- Canine epilepsy geneticsKari J. Ekenstedt, Edward E. Patterson, James R. Mickelson · 2011 · Mammalian Genome
- Copy Number Variation Screen Identifies a Rare De Novo Deletion at Chromosome 15q13.1-13.3 in a Child with Language ImpairmentKerry A. Pettigrew, Emily Reeves, Ruth Leavett, Marianna E. Hayiou‐Thomas, Anahita Sharma, Nuala H. Simpson, Angela Maria Martinelli, Paul Andrew Thompson, Charles Hulme, Margaret J. Snowling et al. · 2015 · PLoS ONE
- Study Designs for Identification of Rare Disease Variants in Complex Diseases: The Utility of Family-Based DesignsIuliana Ionita‐Laza, Ruth Ottman · 2011 · Genetics
- Gain-of-functionHCN2variants in genetic epilepsyMelody Li, Snezana Maljevic, A. Marie Phillips, Slavé Petrovski, Michael S. Hildebrand, Rosemary Burgess, Therese Mount, Federico Zara, Pasquale Striano, Julian Schubert et al. · 2017 · Human Mutation
- Nicotinic Acetylcholine Receptor Dysfunction in Addiction and in Some Neurodegenerative and Neuropsychiatric DiseasesAna Sofía Vallés, Francisco José Barrantes · 2023 · Cells
- Modulation of aggressive behavior in mice by nicotinic receptor subtypesAlan S. Lewis, Yann S. Mineur, Philip H. Smith, Emma L M Cahuzac, Marina R. Picciotto · 2015 · Biochemical Pharmacology
- CNVs in EpilepsyHeather C. Mefford · 2014 · Current Genetic Medicine Reports
- Genetics of epilepsyDanielle A. Nolan, John K. Fink · 2018 · Handbook of clinical neurology
- Autism - A Neurodevelopmental Journey from Genes to BehaviourValsamma Eapen · 2011 · InTech eBooks
- Array comparative genomic hybridization: Results from an adult population with drug-resistant epilepsy and co-morbiditiesElizabeth Caruana Galizia, Maithili Srikantha, Rodger W. Palmer, Jonathan J. Waters, Nicholas Lench, Caroline Mackie Ogilvie, Dalia Kasperavičiūtė, Lina A. M. Nashef, Sanjay M. Sisodiya · 2012 · European Journal of Medical Genetics
- Genetic Testing in Epilepsy: What Should you be Doing?Ingrid Eileen Scheffer · 2011 · Epiliepsy currents/Epilepsy currents
- Pharmacogenomics and Epilepsy: The Road AheadGianpiero L. Cavalleri, Mark McCormack, Saud Alhusaini, Elijah C. Chaila, Norman Delanty · 2011 · Pharmacogenomics
- The Human-Restricted Isoform of the α7 nAChR, CHRFAM7A: A Double-Edged Sword in Neurological and Inflammatory DisordersSimona Di Lascio, Diego Fornasari, Roberta Benfante · 2022 · International Journal of Molecular Sciences
- Structural genomic variation in childhood epilepsies with complex phenotypesIngo Helbig, Mariëlle E.M. Swinkels, Emmelien Aten, Almuth Caliebe, Ruben van ‘t Slot, Rainer Boor, Sarah von Spiczak, Hiltrud Muhle, Johanna A. Jähn, Ellen van Binsbergen et al. · 2013 · European Journal of Human Genetics
- Functional Variant in Complement C3 Gene Promoter and Genetic Susceptibility to Temporal Lobe Epilepsy and Febrile SeizuresSarah Jamali, Annick Salzmann, Nader Ali Perroud, Magali Ponsole-Lenfant, Jennifer Cillario, Patrice Roll, Nathalie Roëckel, Ariel Crespel, Jörg Balzar, Kurt Schlachter et al. · 2010 · PLoS ONE
- Distribution of Disease-Associated Copy Number Variants Across Distinct Disorders of Cognitive DevelopmentMatthew F. Pescosolido, Ece Dilber Gamsiz Uzun, Shailender Nagpal, Eric M. Morrow · 2013 · Journal of the American Academy of Child & Adolescent Psychiatry
- The Genetics of the EpilepsiesChristelle Moufawad El Achkar, Heather E. Olson, Annapurna Poduri, Phillip Lawrence Pearl · 2015 · Current Neurology and Neuroscience Reports
- The Genetics of Neuropsychiatric Diseases: Looking In and Beyond the ExomeErin L. Heinzen, Benjamin M. Neale, Stephen F. Traynelis, Andrew S. Allen, David B. Goldstein · 2015 · Annual Review of Neuroscience
- Pharmacoresponse in Genetic Generalized Epilepsy: A Genome-Wide Association StudyStefan Wolking, Herbert Schulz, Anne T. Nies, Mark McCormack, Elke Schaeffeler, Pauls Auce, Andreja Avberšek, Felicitas Becker, Karl Martin Klein, Martin Krenn et al. · 2020 · Pharmacogenomics
- 15q13.3 duplication in two patients with childhood‐onset schizophreniaDale Zhou, Peter Gochman, Diane D. Broadnax, Judith L. Rapoport, Kwangmi Ahn · 2016 · American Journal of Medical Genetics Part B Neuropsychiatric Genetics
- Microduplication of 15q13.3 and Xq21.31 in a family with tourette syndrome and comorbiditiesLinea Melchior, Birgitte Bertelsen, Nanette Mol Debes, Camilla Groth, Liselotte Skov, Jens Damsgaard Mikkelsen, Karen Brøndum‐Nielsen, Zeynep Tümer · 2013 · American Journal of Medical Genetics Part B Neuropsychiatric Genetics
- New genetic findings in schizophrenia: is there still room for the dopamine hypothesis of schizophrenia?Vanessa Nieratschker · 2010 · Frontiers in Behavioral Neuroscience
- Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndromeHiltrud Muhle, Heather C. Mefford, Tanja Obermeier, Sarah von Spiczak, Evan E. Eichler, Ulrich Stephani, Thomas Sander, Ingo Helbig · 2011 · Epilepsia
- Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in Autism Spectrum Disorder Brazilian Individuals with and without EpilepsyDanielle P. Moreira, Karina Griesi‐Oliveira, Ana Luiza Bossolani-Martins, Naila Cristina Vilaça Lourenço, Vanessa Takahashi, Katia Maria da Rocha, Eloísa Sá Moreira, Estêvão Vadasz, Joanna Góes Castro Meira, Débora Romeo Bertola et al. · 2014 · PLoS ONE
- Copy Number Variations in Patients With Electrical Status Epilepticus in SleepSietske H. Kevelam, Floor E. Jansen, Ellen van Binsbergen, Kees P. J. Braun, Nienke E. Verbeek, Dick Lindhout, Martin Poot, Eva H. Brilstra · 2011 · Journal of Child Neurology
- Uncovering Genomic Causes of Co-Morbidity in Epilepsy: Gene-Driven Phenotypic Characterization of Rare MicrodeletionsDalia Kasperavičiūtė, Claudia B. Catarino, Krishna Chinthapalli, Lisa M. S. Clayton, Maria Thom, Lillian Martinian, Hannah Cohen, Shazia Adalat, Detlef Böckenhauer, Simon A. S. Pope et al. · 2011 · PLoS ONE
- Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General PopulationCiria C. Hernández, Tara Klassen, Laurel G. Jackson, Katharine N. Gurba, Ningning Hu, Jeffrey L. Noebels, Robert L. Macdonald · 2016 · PLoS ONE
- Unraveling the genetic basis of epilepsy: Recent advances and implications for diagnosis and treatmentRekha Dwivedi, Meenakshi Kaushik, Manjari Tripathi, Rima Dada, Prabhakar Tiwari · 2024 · Brain Research
- The Evolving Picture of Microdeletion/Microduplication Syndromes in the Age of Microarray Analysis: Variable Expressivity and Genomic ComplexityKristen L. Deak, Sarah R Gonzales-van Horn, Catherine Weaver Rehder · 2011 · Clinics in Laboratory Medicine
- Alterations in the expression of neuronal chloride transporters may contribute to schizophreniaHans O. Kalkman · 2011 · Progress in Neuro-Psychopharmacology and Biological Psychiatry
- Clinical Genetic Testing in EpilepsyHeather C. Mefford · 2015 · Epiliepsy currents/Epilepsy currents
- Ordered Subset Analysis of Copy Number Variation Association with Age at Onset of Alzheimer's DiseaseKinga Szigeti, Blanka Kellermayer, Jenna M. Lentini, Brian Trummer, Deepika Lal, Rachelle Smith Doody, Yán Li, Song Liu, Chang‐Xing Ma · 2014 · Journal of Alzheimer s Disease
- Epileptic Encephalopathies—Clinical Syndromes and Pathophysiological ConceptsMarkus von Deimling, Ingo Helbig, Eric D. Marsh · 2017 · Current Neurology and Neuroscience Reports
- Functional variants in HCN 4 and CACNA 1H may contribute to genetic generalized epilepsyFelicitas Becker, Christopher A. Reid, Kerstin Hallmann, Han‐Shen Tae, A. Marie Phillips, Georgeta Teodorescu, Yvonne G. Weber, Ailing A. Kleefuß‐Lie, Christian Erich Elger, Edward Perez‐Reyes et al. · 2017 · Epilepsia Open
- Chromosomal loss of 3q26.3‐3q26.32, involving a partial neuroligin 1 deletion, identified by genomic microarray in a child with microcephaly, seizure disorder, and severe intellectual disabilityAlison Millson, Danielle LaGrave, Mary J H Willis, Leslie R. Rowe, Elaine Lyon, Sarah T. South · 2011 · American Journal of Medical Genetics Part A
- Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsiesEduardo Pérez‐Palma, Ingo Helbig, Karl Martin Klein, Verneri Anttila, Heiko Horn, Eva Maria Reinthaler, Padhraig Gormley, Andrea Ganna, Andrea Byrnes, Katharina Pernhorst et al. · 2017 · Journal of Medical Genetics
- Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapsesLaura Addis, William Sproviero, Sanjeev V. Thomas, Roberto Horacio Caraballo, Stephen Newhouse, Kumudini Gomez, Elaine Hughes, Maria Kinali, David McCormick, Siobhan Hannan et al. · 2018 · Journal of Medical Genetics
- LGI1 microdeletion in autosomal dominant lateral temporal epilepsyManuela Fanciulli, Lia Santulli, Luca Errichiello, Chiara Barozzi, Luciana Tomasi, Laura Rigon, T. Cubeddu, Arturo de Falco, Alessandra Rampazzo, Roberto Michelucci et al. · 2012 · Neurology
- Fusion of Large-Scale Genomic Knowledge and Frequency Data Computationally Prioritizes Variants in EpilepsyIan M. Campbell, Mitchell Rao, Sean D. Arredondo, Seema R. Lalani, Zhilian Xia, Sung-Hae Lee Kang, Weimin Bi, Amy M. Breman, Janice L. Smith, Carlos A. Bacino et al. · 2013 · PLoS Genetics
- Clinical and genetic study of a family with a paternally inherited 15q11–q13 duplicationMarini, Carla, Cecconi, Antonella, Contini, Elisa, Pantaleo, Marilena, Metitieri, Tiziana, Guarducci, Silvia, Giglio, Sabrina, Guerrini, Renzo, Genuardi, Maurizio · 2013 · American Journal of Medical Genetics Part A
- Pathophysiological Mechanisms Underlying the Etiologies of Seizures and EpilepsyAlejandro Vera-González · 2022 · Epilepsy
- Atypical face shape and genomic structural variants in epilepsyKrishna Chinthapalli, Emanuele Bartolini, Jan Nový, Michael Suttie, Carla Marini, Melania Falchi, Zoe V Fox, Lisa M. S. Clayton, Josemir W. A. S. Sander, Renzo Guerrini et al. · 2012 · Brain
- Iterative phenotyping of 15q11.2, 15q13.3 and 16p13.11 microdeletion carriers in pediatric epilepsiesJähn, Johanna A., von Spiczak, Sarah, Muhle, Hiltrud, Obermeier, Tanja, Franke, Andre, Mefford, Heather C., Stephani, Ulrich, Helbig, Ingo · 2014 · Epilepsy Research
- Loss of function of OTUD7A in the schizophrenia- associated 15q13.3 deletion impairs synapse development and function in human neuronsAlena Kozlova, Siwei Zhang, Alex Kotlar, Brendan Jamison, Hanwen Zhang, Serena Qinyun Z. Shi, Marc P. Forrest, John McDaid, David J. Cutler, Michael P. Epstein et al. · 2022 · The American Journal of Human Genetics
- Copy number variants in attention-deficit hyperactive disorder: identification of the 15q13 deletion and its functional roleStefano Valbonesi, C. Magri, M. Traversa, S. Faraone, A. Cattaneo, E. Milanesi, Vera Valenti, M. Gennarelli, C. Scassellati · 2015 · Psychiatric Genetics
- Autism‐linked CHD gene expression patterns during development predict multi‐organ disease phenotypesSahrunizam Kasah, Christopher Oddy, M. Albert Basson · 2018 · Journal of Anatomy
- Functional assessment of the “two-hit” model for neurodevelopmental defects in Drosophila and X. laevisLucilla Pizzo, Micaela C. Lasser, Tanzeen Yusuff, Matthew Jensen, Phoebe Ingraham, Emily Huber, Mayanglambam Dhruba Singh, Connor Monahan, Janani S. Iyer, Inshya Desai et al. · 2021 · PLoS Genetics
- Prioritization of Epilepsy Associated Candidate Genes by Convergent AnalysisPeilin Jia, Jeffrey M. Ewers, Zhongming Zhao · 2011 · PLoS ONE
- Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: A differential diagnosis of ceroid lipofuscinosisAlice Masurel, Isabelle Drumare, Muriel Holder, Jean‐Marie Cuisset, Louis Vallée, Sabine Defoort‐Dhellemmes, Béatrice Bourgois, Philippe Pernes, Jean‐Christophe Cuvellier, Frédéric Huet et al. · 2014 · American Journal of Medical Genetics Part A
- Association study and mutation sequencing of genes on chromosome 15q11-q13 identified GABRG3 as a susceptibility gene for autism in Chinese Han populationLinyan Wang, Jun Li, Mei Shuang, Tianlan Lu, Ziqi Wang, Tian Zhang, Weihua Yue, Meixiang Jia, Yanyan Ruan, Jing Liu et al. · 2018 · Translational Psychiatry
- Genome-wide gene expression in a patient with 15q13.3 homozygous microdeletion syndromeJean‐Baptiste Le Pichon, Shihui Yu, Nataliya Kibiryeva, William David Graf, Douglas C. Bittel · 2013 · European Journal of Human Genetics
- Epilepsy with cognitive deficit and autism spectrum disorders: Prospective diagnosis by array CGHJillian K. Nicholl, Wendy Waters, Shanna Suwalski, Sue Brown, Yvonne Hull, Michael G. Harbord, John Entwistle, Suzanna C. Thompson, Damian Clark, Claire Pridmore et al. · 2012 · American Journal of Medical Genetics Part B Neuropsychiatric Genetics
- The Genetic Architecture of Methotrexate Toxicity Is Similar in Drosophila melanogaster and HumansGalina Kislukhin, Elizabeth G. King, Kelli N Walters, Stuart J. Macdonald, Anthony D. Long · 2013 · G3 Genes Genomes Genetics
- Chipping away at the common epilepsies with complex genetics: the 15q13.3 microdeletion shows the wayJohn C. Mulley, Leanne M. Dibbens · 2009 · Genome Medicine
- Genomic microdeletions associated with epilepsy: Not a contraindication to resective surgeryClaudia B. Catarino, Dalia Kasperavičiūtė, Maria Thom, Gianpiero L. Cavalleri, Lillian Martinian, Erin L. Heinzen, Thomas Dorn, Thomas Grünwald, Elijah C. Chaila, Chantal Depondt et al. · 2011 · Epilepsia
- Familial partial trisomy 15q11-13 presenting as intractable epilepsy in the child and schizophrenia in the motherMarina Michelson, Avi Eden, Chana Vinkler, Esther Leshinsky‐Silver, Uri Kremer, Tally Lerman‐Sagie, Dorit Lev · 2010 · European Journal of Paediatric Neurology
- The Phenotypic Spectrum of 15q13.3 Region Duplications: Report of 5 PatientsMagdalena Budișteanu, Sorina Mihaela Papuc, Ioana Streață, Mihai Cucu, Andrei Pîrvu, Simona Serban Sosoi, Alina Erbescu, Lucia Emanuela Andrei, Catrinel Iliescu, Doina Ioana et al. · 2021 · Genes
- Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndromeBrianna K. Unda, Leon Chalil, Sehyoun Yoon, Savannah Kilpatrick, Courtney L. Irwin, Sansi Xing, Nadeem Murtaza, Anran Cheng, Chad O. Brown, Alexandria Afonso et al. · 2023 · Molecular Psychiatry
- Copy number variants--an unexpected risk factor for the idiopathic generalized epilepsiesIngrid Eileen Scheffer, Samuel Frank Berkovic · 2010 · Brain
- Association of a Functional Polymorphism in the CHRFAM7A Gene with Inflammatory Response Mediators and Neuropathic Pain after Spinal Cord InjuryWan Huang, Nadine Kabbani, Tricia Brannan, Mingkuan Lin, Mark M. Theiss, John F. Hamilton, James M. Ecklund, Yvette P. Conley, Yoram Vodovotz B, David Michael Brienza et al. · 2019 · Journal of Neurotrauma
- The path from scientific discovery to cures for epilepsyGemma L. Carvill, Chris G. Dulla, Dan H. Lowenstein, Amy R. Brooks‐Kayal · 2019 · Neuropharmacology
- The spectrum of epilepsy in children with 15q13.3 microdeletion syndromeRobyn Whitney, Arjun Nair, Elizabeth McCready, Anne E. Keller, Ishita Siddiq Adil, Aly Shah Aziz, Oksana Borys, Kaitlyn Siu, Chintan Shah, Brandon F. Meaney et al. · 2021 · Seizure
- Genetic variation in CHRNA7 and CHRFAM7A is associated with nicotine dependence and response to varenicline treatmentCinzia Cameli, Elena Bacchelli, Maria De Paola, Giuliano Giucastro, Stefano Cifiello, Ginetta Collo, Maria Michela Cainazzo, Luigi Alberto Pini, Elena Maestrini, Michèle Zoli · 2018 · European Journal of Human Genetics
- The NIH NeuroBioBank: creating opportunities for human brain researchMichelle P. Freund, Anna R. Taylor, Cathy Ng, A. Roger Little · 2018 · Handbook of clinical neurology
- Predicting Risk and the Emergence of SchizophreniaMary Catherine Clarke, Ian Kelleher, Maurice Clancy, Mary D Cannon · 2012 · Psychiatric Clinics of North America