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

Cited by (550)

Items 501–550 of 550

  1. Klinische genetica in perspectief
    Ben C.J. Hamel · 2009 · Radboud Repository (Radboud University)
  2. Genetic (Primary) Idiopathic Generalized Epilepsy (IGE)
    Zaid Afawi · 2009
  3. Genomic copy number variation in schizophrenia
    Danielle S. Rudd · 2014
  4. Attention deficit hyperactivity disorder analyzed with array comparative genome hybridization method. Case report
    Balázs Duga, Márta Czakó, Katalin Komlósi, Kinga Hadzsiev, Katalin Sümegi, Péter Kisfali, Márton Melegh, Béla Melegh · 2014 · Orvosi Hetilap
  5. Response to comments on the paper “Blinders, phenotype, and fashionable genetic analysis: A critical examination of the current state of epilepsy genetic studies”
    David A. Greenberg, Ryan L. Subaran · 2011 · Epilepsia
  6. Epilepsy: insights into causes and treatment dilemmas
    Samuel Frank Berkovic · 2009 · The Lancet Neurology
  7. Genetik epileptischer Enzephalopathien
    Ingo Helbig, H. Harms, Hiltrud Muhle · 2014 · Clinical Epileptology
  8. The Genetics of Common Epilepsy Disorders: Lessons Learned from the Channelopathy Era
    Ryan L. Subaran, David A. Greenberg · 2014 · Current Genetic Medicine Reports
  9. Genetics of large populations in epilepsy: Association studies - Trials and tribulations
    Nigel CK Tan · 2011
  10. Towards an understanding of the role of chromosome 15q11-q13 in idiopathic autism
    Ryan Delahanty · 2010
  11. Rolando-Epilepsie
    Bernd Axel Neubauer, Andreas Hahn · 2011 · Clinical Epileptology
  12. New Diagnostic Approaches in Childhood Epilepsy: What Has Been Changed with Genetic Advances?: Review
    Semra Hız Kurul · 2016 · Turkiye Klinikleri Journal of Pediatrics
  13. Interictal memory disturbance: a comparative phenomenology and epidemiology of memory impairment in epilepsies
    Hennric Jokeit, Simone Bosshardt, Victoria A. Reed · 2012
  14. Imprinting in the CNS and Neurodevelopmental Disorders
    Weston T. Powell, Janine M. LaSalle · 2013 · Elsevier eBooks
  15. Identifying CNVs in 15q11q13 and 16p11.2 of Patients with Seizures Increases the Rates of Detecting Pathogenic Changes
    Gabrielle S. Vianna, Mariana Lopes de Freitas, Valdirene T. de Oliveira, Rafaella X. Pietra, Michele da S. Gonçalves, Patrícia P.O. Rocha, Rejane A.C. Monteiro, Luana C. de Assis Ferreira, Rosana R. Xavier, Andréia M. Carvalho et al. · 2016 · Molecular Syndromology
  16. Epileptic Seizures Associated with Chromosomal Abnormalities Detected by Array Comparative Genomic Hybridization in Five Albanian Children
    Anila Babameto-Laku, Serla Grabova, Jera Kruja, Gentian Vyshka · 2017 · Journal of Pediatric Epilepsy
  17. Molecular Diagnosis of Epilepsy in Clinical Practice
    이윤정, 권순학, 황수경, Ju-Hee An · 2016 · Annals of Child Neurology
  18. Heterogeneous Contribution of Microdeletions in the Development of Common Generalized and Focal epilepsies
    Eduardo 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 · bioRxiv (Cold Spring Harbor Laboratory)
  19. Finding the Missing Pieces: The Microdeletion Burden in GGE
    Heather C. Mefford · 2016 · Epiliepsy currents/Epilepsy currents
  20. Chromosomal Microarray in the New High-Throughput Technological and Bioinformatic Era
    Susan Mathew · 2019 · Springer eBooks
  21. [Genetic variations and epilepsy].
    Yan Sun, Fei Yin · 2017 · PubMed Central
  22. A systems biology approach to interpret the pharmacogenomic role of copy number variations in a patient with refractory epilepsy and intellectual disability
    Maria Guarnaccia, Giuseppina Daniela Naimo, Francesca Luisa Conforti, Sebastiano Cavallaro · 2020 · Journal of Clinical and Molecular Medicine
  23. Genome-wide Investigation of Rare Genetic Variation in Epilepsy and Autism Spectrum Disorder
    Farah Qaiser · 2020 · TSpace (University of Toronto)
  24. Functional outcomes of copy number variations of Chrna7 gene
    Daniela Ferrari, Angela D’Anzi, Alessia Casamassa, Laura Bernardini, Ada Maria Tata, Angelo Luigi Vescovi, Jessica Diana Rosati · 2022 · Elsevier eBooks
  25. Basismechanismen, allgemeine Ätiologie und Pathogenese
    Bernd Axel Neubauer, Andreas Hahn · 2014 · Springer eBooks
  26. Faculty Opinions recommendation of Clinical spectrum of STX1B-related epileptic disorders.
    Paul F. Lasko · 2021 · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
  27. Epilepsien
    Ingmar Blümcke · 2011 · Springer eBooks
  28. Imaging Network Alterations in Patients With Genetic Generalized Epilepsy and Their Healthy Siblings Using Magneto- and Electroencephalography
    Christina Stier · 2022
  29. Strategies for Studying the Epilepsy Genome
    Thomas N. Ferraro, Dennis Dlugos, Hakon H. Hakonarson, Russell J. Buono · 2012 · Oxford University Press eBooks
  30. Epilessie generalizzate
    Philippe Gélisse, Pierre Genton, Arielle Crespel · 2015 · EMC - Neurologia
  31. Bibliographie
    2009 · Elsevier eBooks
  32. Genetische Epilepsien
    Karl Martin Klein, Philipp Sebastian Reif · 2020 · Springer eBooks
  33. Copy Number Variation Analysis from SNP Genotyping Microarrays in Large Cohorts of Neurological Disorders
    Eduardo Pérez‐Palma, Lisa‐Marie Niestroj, Miguel Inca‐Martinez, Camilo Villamán, Elif Irem Sarihan, Dennis Lal, Ignacio Fernandez Mata · 2022 · Neuromethods
  34. EEG network analyses in patients with genetic generalized epilepsy
    Markus Loose · 2023
  35. Einzelne Epilepsiesyndrome
    Christoph Baumgartner, Linda Asamoah-Akwonu, Johannes Peter Koren, Clemens Lang, Susanne Pirker · 2023 · Klinische Neurophysiologie
  36. เครองมอทางชวสารสนเทศเพอตรวจหาการแปรผนเชงโครงสรางทางพนธกรรม
    ศักยภาพ ผิวเหลือง · 2019
  37. Epilepsy
    Chloe J. Lawrence, Kristin D. Kernohan, David Alexandre Dyment · 2024 · Elsevier eBooks
  38. Human Epilepsy Gene Discovery
    Emily S. Bonkowski, Heather C. Mefford · 2024
  39. Global developmental delay and intellectual disability
    Rowim AlMutiri, Afnan AlHakeem, Michael Israel Shevell, Myriam Srour · 2024 · Elsevier eBooks
  40. Clinical and Genetic Characterization of Adolescent-Onset Epilepsy: A Single-Center Experience in Republic of Korea
    Ji Yoon Han, Tae Yun Kim, Joonhong Park · 2024 · Biomedicines
  41. Copy number variations of proteins associated with neurodegenerative diseases and rare neurological disorders
    Zhangzhong Yang, Peng Lei · 2024 · Scientia Sinica Vitae
  42. Genetics of Epilepsy
    Stuti Joshi, Dennis Lal · 2024 · Springer eBooks
  43. Prevalence of Etiological Factors in Adult Patients With Epilepsy in Herzegovina
    Nataša Pejanović-Škobić, Asja Hodžić, Nikolina Pravdić, Marija Bender, Jelena Kordic · 2025 · Cureus
  44. Computational model of alpha 7 nicotinic acetylcholine receptor in thalamic reticular nucleus neurons and their involvement in network states
    Aman Ullah, Karen Therrien, John Robert Cressman, Nadine Kabbani · 2025 · PLoS ONE
  45. Fehlende Erblichkeit bei genetisch komplexen Erkrankungen
    Bernd Axel Neubauer, Karl Martin Klein · 2014 · Clinical Epileptology
  46. Epilepsy
    Sanjay M. Sisodiya · 2012 · Elsevier eBooks
  47. Additional file 1 of SCYN: single cell CNV profiling method using dynamic programming
    Xikang Feng, Lingxi Chen, Yuhao Qing, Ruikang Li, Chaohui Li, Shuai Cheng Li · 2021 · Figshare
  48. Epilepsie et psychopathologie dans deux populations vulnérables : les adultes avec déficience intellectuelle et les adultes suicidants
    Basma Akrout · 2022
  49. Heritability: Genes × Environment
    Franklin Sunzeri · 2026 · Springer eBooks
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