Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

Cited by (446)

Items 201–300 of 446

1. Assessment of copy number variations in 120 patients with Poland syndrome
   Carlotta Maria Vaccari, Elisa Tassano, Michele Torre, Stefania Gimelli, Maria Teresa Divizia, Maria Victoria Romanini, Simone Bossi, Ilaria Musante, Maura Valle, Filippo Maria Senes et al. · 2016 · BMC Medical Genetics
2. Unraveling the genetic basis of epilepsy: Recent advances and implications for diagnosis and treatment
   Rekha Dwivedi, Meenakshi Kaushik, Manjari Tripathi, Rima Dada, Prabhakar Tiwari · 2024 · Brain Research
3. NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype
   Kimberly J. Moles, Gordon C. Gowans, Satyanarayana Gedela, David Quentin Beversdorf, Arthur Yu, Laurie H. Seaver, Roger Alan Schultz, Jill Anne Rosenfeld, Beth S. Torchia, Lisa G. Shaffer · 2012 · Genetics in Medicine
4. Overview of genetic research in anorexia nervosa: The past, the present and the future
   Marek K. Brandys, Carolien G. F. de Kovel, Martien J. Kas, Annemarie A. Van Elburg, Roger A.H. Adan · 2015 · International Journal of Eating Disorders
5. The Evolving Picture of Microdeletion/Microduplication Syndromes in the Age of Microarray Analysis: Variable Expressivity and Genomic Complexity
   Kristen L. Deak, Sarah R Gonzales-van Horn, Catherine Weaver Rehder · 2011 · Clinics in Laboratory Medicine
6. High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations
   Roxana Kariminejad, Allan Lind-Thomsen, Zeynep Tümer, Fikret Erdogan, Hans‐Hilger Ropers, Niels Tommerup, Reinhard Ullmann, Rikke Steensbjerre Møller · 2011 · Human Mutation
7. Clinical Genetic Testing in Epilepsy
   Heather C. Mefford · 2015 · Epiliepsy currents/Epilepsy currents
8. Haploinsufficiency of the schizophrenia and autism risk gene Cyfip1 causes abnormal postnatal hippocampal neurogenesis through microglial and Arp2/3 mediated actin dependent mechanisms
   Haan, Niels, Westacott, Laura J., Carter, Jenny, Owen, Michael J., Gray, William P., Hall, Jeremy, Wilkinson, Lawrence S. · 2021 · Translational Psychiatry
9. Epileptic Encephalopathies—Clinical Syndromes and Pathophysiological Concepts
   Markus von Deimling, Ingo Helbig, Eric D. Marsh · 2017 · Current Neurology and Neuroscience Reports
10. Development of Criteria for Epilepsy Genetic Testing in Ontario, Canada
    Puneet Jain, Danielle Molinari Andrade, Elizabeth J Donner, David Alexandre Dyment, Asuri Narayan Prasad, Sharan L. Goobie, Kym M. Boycott, Matthew A. Lines, O. Carter Snead · 2018 · Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
11. Functional variants in HCN 4 and CACNA 1H may contribute to genetic generalized epilepsy
    Felicitas 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
12. 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 disability
    Alison Millson, Danielle LaGrave, Mary J H Willis, Leslie R. Rowe, Elaine Lyon, Sarah T. South · 2011 · American Journal of Medical Genetics Part A
13. Heterogeneous contribution of microdeletions in the development of common generalised 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 · Journal of Medical Genetics
14. Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses
    Laura 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
15. FMRP and CYFIP1 at the Synapse and Their Role in Psychiatric Vulnerability
    Clifton, Nicholas E., Thomas, Kerrie L., Wilkinson, Lawrence S., Hall, Jeremy, Trent, Simon · 2020 · Complex Psychiatry
16. Fusion of Large-Scale Genomic Knowledge and Frequency Data Computationally Prioritizes Variants in Epilepsy
    Ian 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
17. Genomics of schizophrenia and pharmacogenomics of antipsychotic drugs
    Ramón Cacabelos, Pablo Cacabelos, Gjumrakch Aliev · 2013 · Open Journal of Psychiatry
18. Association of congenital cardiovascular malformation and neuropsychiatric phenotypes with 15q11.2 (BP1–BP2) deletion in the UK Biobank
    Simon G. Williams, Apostol Nakev, Hui Guo, Simon Frain, Gennadiy Tenin, Anna Liakhovitskaia, Priyanka Saha, James Rush Priest, Kathryn E. Hentges, Bernard D. Keavney · 2020 · European Journal of Human Genetics
19. Pathophysiological Mechanisms Underlying the Etiologies of Seizures and Epilepsy
    Alejandro Vera-González · 2022 · Epilepsy
20. Atypical face shape and genomic structural variants in epilepsy
    Krishna 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
21. Lessons learned from gene identification studies in Mendelian epilepsy disorders
    Katia Hardies, Sarah Weckhuysen, Peter De Jonghe, Arvid Suls · 2015 · European Journal of Human Genetics
22. Severe congenital microcephaly with 16p13.11 microdeletion combined with NDE1 mutation, a case report and literature review
    Li Tan, Bo Bi, Peiwei Zhao, Xiaonan Cai, Chunhui Wan, Jianbo Shao, Xuelian He · 2017 · BMC Medical Genetics
23. Iterative phenotyping of 15q11.2, 15q13.3 and 16p13.11 microdeletion carriers in pediatric epilepsies
    Jähn, Johanna A., von Spiczak, Sarah, Muhle, Hiltrud, Obermeier, Tanja, Franke, Andre, Mefford, Heather C., Stephani, Ulrich, Helbig, Ingo · 2014 · Epilepsy Research
24. Parental origin impairment of synaptic functions and behaviors in cytoplasmic FMRP interacting protein 1 (Cyfip1) deficient mice
    Leeyup Chung, Xiaoming Wang, Li Zhu, Aaron J. Towers, Xinyu Cao, Il Hwan Kim, Yong‐hui Jiang · 2015 · Brain Research
25. A genome‐wide CNV analysis of schizophrenia reveals a potential role for a multiple‐hit model
    Danielle S. Rudd, Michael Axelsen, Eric A. Epping, Nancy C. Andreasen, Thomas H. Wassink · 2014 · American Journal of Medical Genetics Part B Neuropsychiatric Genetics
26. Cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH
    Jillian K. Nicholl, Wendy Waters, John C. Mulley, Shanna Suwalski, Sue Brown, Yvonne Hull, Christopher Barnett, Eric Haan, Elizabeth M. Thompson, Jan E. Liebelt et al. · 2013 · Pathology
27. Array-CGH Analysis Suggests Genetic Heterogeneity in Rhombencephalosynapsis
    Florence Démurger, Laurent Pasquier, Christèle Dubourg, Valérie Dupé, Isabelle Gicquel, C. Evain, Leslie Ratié, Sylvie Jaillard, Mylène Béri, Bruno Leheup et al. · 2013 · Molecular Syndromology
28. Genomic Variation: Lessons Learned from Whole-Genome CNV Analysis
    Erin Rooney Riggs, David H. Ledbetter, Christa Lese Martin · 2014 · Current Genetic Medicine Reports
29. Should We Report 15q11.2 BP1-BP2 Deletions and Duplications in the Prenatal Setting?
    Idit Maya, Sharon Perlman, Mordechai Shohat, Sarit Kahana, Shiri Yacobson, Tamar Tenne, Ifaat Agmon‐Fishman, Reut Tomashov Matar, Lina Basel‐Salmon, Rivka Sukenik Halevy · 2020 · Journal of Clinical Medicine
30. Epilepsy with cognitive deficit and autism spectrum disorders: Prospective diagnosis by array CGH
    Jillian 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
31. Molecular biology of epilepsy genes
    Charles A. Williams, Agatino Battaglia · 2011 · Experimental Neurology
32. Familial transmission of recurrent 15q11.2 (BP1-BP2) microdeletion encompassing NIPA1, NIPA2, CYFIP1, and TUBGCP5 associated with phenotypic variability in developmental, speech, and motor delay
    Chih‐Ping Chen, Shuan‐Pei Lin, Chung‐Lin Lee, Schu‐Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Wayseen Wang · 2017 · Taiwanese Journal of Obstetrics and Gynecology
33. Genomic microdeletions associated with epilepsy: Not a contraindication to resective surgery
    Claudia 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
34. Detection of copy number variants using chromosomal microarray analysis for the prenatal diagnosis of congenital heart defects with normal karyotype
    Tingting Song, Shanning Wan, Yu Li, Ying Xu, Yinghui Dang, Yunyun Zheng, Chunyan Li, Jiao Zheng, Biliang Chen, Jianfang Zhang · 2018 · Journal of Clinical Laboratory Analysis
35. Clinical utility gene card for: 16p13.11 microdeletion syndrome
    Maria Tropeano, Joris Andrieux, David Andrew Collier · 2013 · European Journal of Human Genetics
36. Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
    Si-Wei Chen, B. Abou-Khalil, Z. Afawi, Q. Z. Ali, Elisabetta Amadori, Alison Anderson, Joseph Anderson, Danielle M. Andrade, G. Annesi, M. Arslan et al. · 2023 · medRxiv
37. Loss of Function in the Neurodevelopmental Disease and Schizophrenia-Associated Gene CYFIP1 in Human Microglia-like Cells Supports a Functional Role in Synaptic Engulfment
    Steven D. Sheridan, Joy E. Horng, Hana Yeh, Liam T. McCrea, Jennifer P Wang, Ting Fu, Roy H. Perlis · 2022 · Biological Psychiatry
38. A three-step workflow procedure for the interpretation of array-based comparative genome hybridization results in patients with idiopathic mental retardation and congenital anomalies
    Martin Poot, Ron Hochstenbach · 2010 · Genetics in Medicine
39. Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome
    Vincent Strehlow, Mariëlle E.M. Swinkels, Rhys Huw Thomas, Nora Rapps, Steffen Syrbe, Thomas Dorn, Johannes R. Lemke · 2016 · Molecular Syndromology
40. Clinical report: An interstitial deletion of 16p13.11 detected by array CGH in a patient with infantile spasms
    Meena Balasubramanian, Kath Smith, Santosh Mordekar, Michael James Parker · 2011 · European Journal of Medical Genetics
41. Genetic investigations of the epileptic encephalopathies
    Candace T. Myers, Heather C. Mefford · 2016 · Progress in brain research
42. Copy Number Variations in DISC1 and DISC1-Interacting Partners in Major Mental Illness
    Mandy Johnstone, Alan W Maclean, Lien Heyrman, An‐Sofie Lenaerts, Annelie Nordin, Lars‐Göran Nilsson, Peter De Rijk, Dirk Goossens, Rolf Adolfsson, David M. St. Clair et al. · 2015 · Complex Psychiatry
43. Microdeletion of Chromosome 15q26.1 in a Child With Intractable Generalized Epilepsy
    Radhika Dhamija, Galen N. Breningstall, Lily C. Wong‐Kisiel, Michelle Dolan, Betsy A Hirsch, Elaine C. Wirrell · 2011 · Pediatric Neurology
44. Altered Structural Brain Networks in Refractory and Nonrefractory Idiopathic Generalized Epilepsy
    Andrea McKavanagh, Barbara A. K. Kreilkamp, Yachin Chen, Christine E. Denby, Robert Martyn Bracewell, Kumar Das, Christophe E. de Bézenac, Anthony Guy Marson, Peter N. Taylor, Simon Sean Keller · 2021 · Brain Connectivity
45. Chromosomal microarray analysis for pregnancies with or without ultrasound abnormalities in women of advanced maternal age
    Xiaoqing Wu, Gang An, Xiaorui Xie, Linjuan Su, Meiying Cai, Xuemei Chen, Ying Li, Na Lin, Deqin He, Meiying Wang et al. · 2019 · Journal of Clinical Laboratory Analysis
46. Evaluation of Individuals with Non-Syndromic Global Developmental Delay and Intellectual Disability
    Rowim AlMutiri, Maísa Malta, Michael Israel Shevell, Myriam Srour · 2023 · Children
47. Association Study of the 2-bp Deletion Polymorphism in Exon 6 of the CHRFAM7A Gene with Idiopathic Generalized Epilepsy
    Agata Różycka, Jolanta Dorszewska, Barbara Steinborn, Margarita Lianeri, Anna Winczewska‐Wiktor, Aleksandra Sniezawska, Kamila Wiśniewska, Paweł Piotr Jagodziński · 2013 · DNA and Cell Biology
48. Epilepsy genetics: The ongoing revolution
    Gaëtan Lesca, Christel Depienne · 2015 · Revue Neurologique
49. Copy number variation in a hospital‐based cohort of children with epilepsy
    Danique R.M. Vlaskamp, Petra M.C. Callenbach, Patrick Rump, Lucia Giannini, Trijnie Dijkhuizen, Oebele F. Brouwer, Conny M.A. van Ravenswaaij‐Arts · 2017 · Epilepsia Open
50. The unexpected role of copy number variations in juvenile myoclonic epilepsy
    Helbig, Ingo, Hartmann, Corinna, Mefford, Heather C. · 2013 · Epilepsy & Behavior
51. Genetics of idiopathic epilepsies
    Rima Nabbout, Ingrid Eileen Scheffer · 2013 · Handbook of clinical neurology
52. Genetics of Epileptic Networks: from Focal to Generalized Genetic Epilepsies
    Farah Qaiser, Ryan K. C. Yuen, Danielle Molinari Andrade · 2020 · Current Neurology and Neuroscience Reports
53. The NDE1 genomic locus can affect treatment of psychiatric illness through gene expression changes related to microRNA-484
    Nicholas J. Bradshaw, Liisa Ukkola‐Vuoti, Maiju Pankakoski, Amanda B. Zheutlin, Alfredo Ortega‐Alonso, Minna Torniainen‐Holm, Vishal Sinha, Sebastian Therman, Tiina Paunio, Jaana Suvisaari et al. · 2017 · Open Biology
54. Autism Spectrum Disorder and Epilepsy: Pathogenetic Mechanisms and Therapeutic Implications
    Alessandra Giliberti, Adele Maria Frisina, Stefania Giustiniano, Ylenia Carbonaro, Michele Roccella, Rosaria Nardello · 2025 · Journal of Clinical Medicine
55. Persistent Cyfip1 Expression Is Required to Maintain the Adult Subventricular Zone Neurogenic Niche
    Habela, Christa Whelan, Yoon, Ki-Jun, Kim, Nam-Shik, Taga, Arens, Bell, Kassidy, Bergles, Dwight E., Maragakis, Nicholas J., Ming, Guo-li, Song, Hongjun · 2020 · The Journal of Neuroscience
56. Genetic Testing in Epilepsy: Improving Outcomes and Informing Gaps in Research
    Christa Whelan Habela, Krista Sondergaard Schatz, Sarah Aminoff Kelley · 2024 · Epiliepsy currents/Epilepsy currents
57. Detection of microchromosomal aberrations in refractory epilepsy: a pilot study
    Jacinta M. McMahon, Ingrid Eileen Scheffer, Jillian K. Nicholl, Wendy Waters, Helen J. Eyre, Lyn Hinton, Paul Nelson, Sui Yu, Leanne M. Dibbens, Samuel Frank Berkovic et al. · 2010 · Epileptic Disorders
58. Analysis copy number variation of Chinese children in early‐onset epileptic encephalopathies with unknown cause
    Yan Ma, C. Chen, Yibin Wang, Liwen Wu, Fang Ping He, C. Chen, Chenchen Zhang, X. Deng, Li Yang, Y. Chen et al. · 2016 · Clinical Genetics
59. Prenatal diagnosis of a familial 15q11.2 (BP1-BP2) microdeletion encompassing TUBGCP5, CYFIP1, NIPA2 and NIPA1 in a fetus with ventriculomegaly, microcephaly and intrauterine growth restriction on prenatal ultrasound
    Chih‐Ping Chen, Sui‐Yuan Chang, Liang‐Kai Wang, Tung‐Yao Chang, Schu‐Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Tzu-Yun Chuang, Chien-Wen Yang et al. · 2018 · Taiwanese Journal of Obstetrics and Gynecology
60. What Every Internist-Endocrinologist Should Know about Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five Years of ‘Internal Medicine for Rare Genetic Syndromes’
    Anna G. W. Rosenberg, Minke R. A. Pater, Karlijn Pellikaan, Kirsten Davidse, Anja A. Kattentidt‐Mouravieva, Rogier Kersseboom, Anja G. Bos‐Roubos, Agnies M. van Eeghen, José M C Veen-Roelofs, Jiske J. van der Meulen et al. · 2021 · Journal of Clinical Medicine
61. Cortical morphometric vulnerability to generalised epilepsy reflects chromosome‐ and cell type‐specific transcriptomic signatures
    Jiao Li, Simon Sean Keller, Jakob Seidlitz, Huafu Chen, Bing Li, Yifei Weng, Yao Meng, Siqi Yang, Qiang Xu, Qirui Zhang et al. · 2022 · Neuropathology and Applied Neurobiology
62. The RNA-binding protein MARF1 promotes cortical neurogenesis through its RNase activity domain
    Yoshitaka Kanemitsu, Masashi Fujitani, Yuki Fujita, Suxiang Zhang, You‐Qiang Su, Yukio Kawahara, Toshihide Yamashita · 2017 · Scientific Reports
63. Epilepsy in 22q11.2 Deletion Syndrome: A Case Series and Literature Review
    Basanagoud D. Mudigoudar, Sunitha Nune, Stephen P. Fulton, Ehab A. Dayyat, James W. Wheless · 2017 · Pediatric Neurology
64. Genetics of human epilepsies: Continuing progress
    Pierre Szepetowski · 2017 · La Presse Médicale
65. Myoclonic epilepsy, parkinsonism, schizophrenia and left-handedness as common neuropsychiatric features in 22q11.2 deletion syndrome
    Martina Fanella, Marianna Frascarelli, Caterina Lambiase, Alessandra Morano, Marta Unolt, Natascia Liberati, Jinane Fattouch, Antonino Buzzanca, Tommaso Accinni, Marco Ceccanti et al. · 2019 · Journal of Medical Genetics
66. Genome wide analysis of novel copy number variations duplications/deletions of different epileptic patients in Saudi Arabia
    Muhammad Imran Naseer, Muhammad Faheem, Adeel Chaudhary, Taha Kumosani, Maha Mohsin Al-Quaiti, Mohammed M. Jan, Hasan Saleh Jamal, Mohammad H. Al-Qahtani · 2015 · BMC Genomics
67. Principal Components of Heritability From Neurocognitive Domains Differ Between Families With Schizophrenia and Control Subjects
    Howard W. Wiener, Lambertus Klei, Monica E. Calkins, Joel A. Wood, Vishwajit Laxmikant Nimgaonkar, Ruben C. Gur, L. DiAnne Bradford, Jan A. Richard, Neil B. Edwards, Robert Savage et al. · 2012 · Schizophrenia Bulletin
68. Unraveling the genetics of common epilepsies: Approaches, platforms, and caveats
    Slavé Petrovski, Patrick Kwan · 2012 · Epilepsy & Behavior
69. Retrospective genotype-phenotype analysis in a 305 patient cohort referred for testing of a targeted epilepsy panel
    Andrew Hesse, Jen Bevilacqua, Kritika Shankar, Honey V. Reddi · 2018 · Epilepsy Research
70. Intellectual Disability and Behavioral Deficits Linked to CYFIP1 Missense Variants Disrupting Actin Polymerization
    Mariano, Vittoria, Kanellopoulos, Alexandros K., Ricci, Carlotta, Di Marino, Daniele, Borrie, Sarah C., Dupraz, Sebastian, Bradke, Frank, Achsel, Tilmann, Legius, Eric, Odent, Sylvie et al. · 2024 · Biological Psychiatry
71. Microdeleción 15q11.2 (BP1-BP2). Un nuevo síndrome con expresividad variable
    Ayala Pérez, Irene Manchón Trives, Inmaculada Palazón Azorín, LA Mas, E Pérez Lledó, F. Galán Sánchez · 2011 · Anales de Pediatría
72. Advances in Epilepsy Genetics and Genomics
    Jennifer A. Kearney · 2012 · Epiliepsy currents/Epilepsy currents
73. Copy Number Matters in Epilepsy
    Heather C. Mefford · 2015 · Epiliepsy currents/Epilepsy currents
74. Domain-Specific Cognitive Impairments in Humans and Flies With Reduced CYFIP1 Dosage
    Woo, Young Jae, Kanellopoulos, Alexandros K., Hemati, Parisa, Kirschen, Jill, Nebel, Rebecca A., Wang, Tao, Bagni, Claudia, Abrahams, Brett S. · 2019 · Biological Psychiatry
75. Association of ultra‐rare coding variants with genetic generalized epilepsy: A case–control whole exome sequencing study
    Mahmoud Koko, Joshua E. Motelow, Kate E. Stanley, Dheeraj Reddy Bobbili, Ryan S. Dhindsa, Patrick May, Canadian Epilepsy Network, Epilepsy Phenome/Genome Project · 2022 · Epilepsia
76. A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy
    Hiltrud Muhle, Ines Steinich, Sarah von Spiczak, André Franke, Yvonne G. Weber, Holger Lerche, Michael Wittig, Simone Heidemann, Arvid Suls, Peter De Jonghe et al. · 2010 · Epilepsia
77. Épilepsie absence de l’enfant : actualités diagnostiques et thérapeutiques
    P. Garzon, L. Lemelle, Stéphane Auvin · 2016 · Archives de Pédiatrie
78. Classification of pathogenic or benign status of CNVs detected by microarray analysis
    Tak Yeung Leung, Ritsuko Kimata Pooh, Chi Chiu Wang, Tze Kin Lau, Kwong Wai Choy · 2010 · Expert Review of Molecular Diagnostics
79. Genetic Epidemiology and Gene Discovery in Epilepsy
    Ruth Ottman, NEIL J. RISCH · 2012 · Oxford University Press eBooks
80. SPG6 (NIPA1 variant): A report of a case with early-onset complex hereditary spastic paraplegia and brief literature review
    Carlotta Spagnoli, Silvia Schiavoni, Susanna Rizzi, Grazia Gabriella Salerno, Daniele Frattini, Juha W. Koskenvuo, Carlo Fusco · 2021 · Journal of Clinical Neuroscience
81. Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region
    Christelle Moufawad El Achkar, Alyssa R. Rosen, Sudha Kilaru Kessler, Kyle J. Steinman, Sarah J. Spence, Melissa B. Ramocki, Elysa J. Marco, LeeAnne Green Snyder, John E. Spiro, Wendy K. Chung et al. · 2022 · Neurology Genetics
82. Large De Novo Microdeletion in Epilepsy with Intellectual and Developmental Disabilities, with a Systems Biology Analysis
    Kai Gao, Yujia Zhang, Ling Zhang, Weijing Kong, Han Xie, Jingmin Wang, Ye Wu, Xiru Wu, Xiaoyan Liu, Yuehua Zhang et al. · 2018 · Advances in neurobiology
83. Genetic diagnoses in pediatric patients with epilepsy and comorbid intellectual disability
    Mei Yang, Bocheng Xu, Jiamin Wang, Zhu Zhang, Hanbing Xie, He Wang, Ting Hu, Shanling Liu · 2021 · Epilepsy Research
84. Genetic Discoveries Drive Molecular Analyses and Targeted Therapeutic Options in the Epilepsies
    Ryan S. Dhindsa, David B. Goldstein · 2015 · Current Neurology and Neuroscience Reports
85. Genetics of idiopathic generalized epilepsy: An overview
    Anjana Munshi, Devavarapu Kasi Viswa Prasad, U Satyanarayana · 2013 · Neurology India
86. Familial cosegregation of rare genetic variants with disease in complex disorders
    Ingo Helbig, Susan E. Hodge, Ruth Ottman · 2012 · European Journal of Human Genetics
87. Causes of learning disability and epilepsy: a review
    Elizabeth J. Prince, HOWARD A. RING · 2011 · Current Opinion in Neurology
88. Original article A transcript coding for a partially duplicated form of α7 nicotinic acetylcholine receptor is absent from the CD4 + T-lymphocytes of patients with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)
    Agata Różycka, Jolanta Dorszewska, Barbara Steinborn, Bartosz Kempisty, Margarita Lianeri, Kamila Wiśniewska, Paweł Piotr Jagodziński · 2013 · Folia Neuropathologica
89. Structural variation, selection, and diversification of the NPIP gene family from the human pangenome
    Philip C. Dishuck, Katherine M. Munson, Alexandra P. Lewis, Max L. Dougherty, Jason G. Underwood, William T. Harvey, PingHsun Hsieh, Tomi Pastinen, Evan E. Eichler · 2025 · Cell Genomics
90. Diagnostic Considerations in the Epilepsies—Testing Strategies, Test Type Advantages, and Limitations
    Wei-Liang Chen, Heather C. Mefford · 2021 · Neurotherapeutics
91. Whole Exome Sequencing in 16p13.11 Microdeletion Patients Reveals New Variants Through Deductive and Systems Medicine Approaches
    Paola Granata, Dario Cocciadiferro, Alessandra Zito, Chiara Pessina, Alessandro Bassani, Fabio Zambonin, Antonio Novelli, Mauro Fasano, Rosario Casalone · 2022 · Frontiers in Genetics
92. Prenatally detected copy number variants in a national cohort: A postnatal follow‐up study
    Joke Muys, Yves Jacquemyn, Bettina Blaumeiser, Laura Bourlard, Nathalie Brison, Saskia Bulk, Patrizia Chiarappa, Anne De Leener, Marjan De Rademaeker, Julie Désir et al. · 2020 · Prenatal Diagnosis
93. Molecular Mechanisms Underlying the Generation of Absence Seizures: Identification of Potential Targets for Therapeutic Intervention
    Beulah Leitch · 2024 · International Journal of Molecular Sciences
94. Developmental psychopathology: The role of structural variation in the genome
    Michael Gill · 2012 · Development and Psychopathology
95. Beyond the single nucleotide variant in epilepsy genetics
    Ingrid Eileen Scheffer, Heather C. Mefford · 2014 · Nature Reviews Neurology
96. Combining Z-Score and Maternal Copy Number Variation Analysis Increases the Positive Rate and Accuracy in Non-Invasive Prenatal Testing
    Liheng Chen, Lihong Wang, Zhipeng Hu, Yilun Tao, Wenxia Song, Yu An, Xiaoze Li · 2022 · Frontiers in Genetics
97. Chromosome 15q11-q13 copy number gain detected by array-CGH in two cases with a maternal methylation pattern
    Ee Shien Tan, Min‐Hwee Yong, Zhihui Li, Zhi-hui Li, Maggie Brett, Ene‐Choo Tan · 2014 · Molecular Cytogenetics
98. Somatic Focal Copy Number Gains of Noncoding Regions of Receptor Tyrosine Kinase Genes in Treatment-Resistant Epilepsy
    Varshini Vasudevaraja, Javier Hernaez Rodriguez, Cristiana Pelorosso, Kaicen Zhu, Anna Maria Buccoliero, Maristela Lika Onozato, Hussein Mohamed, Jonathan Serrano, Lily Tredwin, Marianna Garonzi et al. · 2020 · Journal of Neuropathology & Experimental Neurology
99. Epigenetics, Brain and Behavior
    Paolo Sassone‐Corsi, Yves Christen · 2012 · Research and perspectives in neurosciences
100. Evaluating, Filtering and Clustering Genetic Disease Cohorts Based on Human Phenotype Ontology Data with Cohort Analyzer
     Elena Rojano, J. Caballero, Fernando M. Jabato, Diana Gallego, Mercedes Serrano, Belén Pérez, Álvaro Parés-Aguilar, James Richard Perkins, Juan A. G. Ranea, Pedro Seoane · 2021 · Journal of Personalized Medicine