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Items: 1 to 20 of 29

1.
A de novo pathogenic variant in MICAL‐1 causes epilepsy with auditory features
Paolo Bonanni, Roberto Giorda, Roberto Michelucci, Carlo Nobile, Emanuela Dazzo
Epilepsia Open. 2024 Jun; 9(3): 1083–1087. Published online 2024 Apr 23. doi: 10.1002/epi4.12937
PMCID:
PMC11145608
AbstractArticlePDF–414K
2.
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders
Nataliya Di Donato, Renzo Guerrini, Charles J Billington, Jr, A James Barkovich, Philine Dinkel, Elena Freri, Michael Heide, Elliot S Gershon, Tracy S Gertler, Robert J Hopkin, Suma Jacob, Sarah K Keedy, Daniz Kooshavar, Paul J Lockhart, Dietmar R Lohmann, Iman G Mahmoud, Elena Parrini, Evelin Schrock, Giulia Severi, Andrew E Timms, Richard I Webster, Mary J H Willis, Maha S Zaki, Joseph G Gleeson, Richard J Leventer, William B Dobyns
Brain. 2022 Sep; 145(9): 3274–3287. Published online 2022 Jun 30. doi: 10.1093/brain/awac164
PMCID:
PMC9989350
AbstractArticlePDF–1.3M
3.
Variation among DNA banking consent forms: points for clinicians to bank on
Samuel J. Huang, Laura M. Amendola, Darci L. Sternen
J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3
PMCID:
PMC9314484
AbstractArticlePDF–776K
4.
Case Report: Stereoelectroencephalography and Stereoelectroencephalography-Guided Radiofrequency Thermocoagulation in Familial Lateral Temporal Lobe Epilepsy
Ziqi Wei, Xiaolai Ye, Changquan Wang, Jiwen Xu, Puming Zhang, Qiangqiang Liu, Jun Zhao
Front Neurol. 2022; 13: 864070. Published online 2022 Apr 4. doi: 10.3389/fneur.2022.864070
PMCID:
PMC9013897
AbstractArticlePDF–3.0M
5.
Epilepsy With Auditory Features: From Etiology to Treatment
Alessandro Furia, Laura Licchetta, Lorenzo Muccioli, Lorenzo Ferri, Barbara Mostacci, Stefania Mazzoni, Veronica Menghi, Raffaella Minardi, Paolo Tinuper, Francesca Bisulli
Front Neurol. 2021; 12: 807939. Published online 2022 Jan 27. doi: 10.3389/fneur.2021.807939
PMCID:
PMC8829259
AbstractArticlePDF–1.3M
6.
Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders
Francisco Martinez-Granero, Fiona Blanco-Kelly, Carolina Sanchez-Jimeno, Almudena Avila-Fernandez, Ana Arteche, Ana Bustamante-Aragones, Cristina Rodilla, Elvira Rodríguez-Pinilla, Rosa Riveiro-Alvarez, Saoud Tahsin-Swafiri, Maria Jose Trujillo-Tiebas, Carmen Ayuso, Marta Rodríguez de Alba, Isabel Lorda-Sanchez, Berta Almoguera
NPJ Genom Med. 2021; 6: 25. Published online 2021 Mar 25. doi: 10.1038/s41525-021-00188-7
PMCID:
PMC7994713
AbstractArticlePDF–1.0M
7.
Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy
Rebecca Truty, Nila Patil, Raman Sankar, Joseph Sullivan, John Millichap, Gemma Carvill, Ali Entezam, Edward D. Esplin, Amy Fuller, Michelle Hogue, Britt Johnson, Amirah Khouzam, Yuya Kobayashi, Rachel Lewis, Keith Nykamp, Darlene Riethmaier, Jody Westbrook, Michelle Zeman, Robert L. Nussbaum, Swaroop Aradhya
Epilepsia Open. 2019 Sep; 4(3): 397–408. Published online 2019 Jul 1. doi: 10.1002/epi4.12348
PMCID:
PMC6698688
AbstractArticlePDF–725K
8.
Diagnostic implications of genetic copy number variation in epilepsy plus
Antonietta Coppola, Elena Cellini, Hannah Stamberger, Elmo Saarentaus, Valentina Cetica, Dennis Lal, Tania Djémié, Magdalena Bartnik‐Glaska, Berten Ceulemans, J. Helen Cross, Tine Deconinck, Salvatore De Masi, Thomas Dorn, Renzo Guerrini, Dorotha Hoffman‐Zacharska, Frank Kooy, Lieven Lagae, Nicholas Lench, Johannes R. Lemke, Ersilia Lucenteforte, Francesca Madia, Heather C. Mefford, Deborah Morrogh, Peter Nuernberg, Aarno Palotie, An‐Sofie Schoonjans, Pasquale Striano, Elzbieta Szczepanik, Anna Tostevin, Joris R. Vermeesch, Hilde Van Esch, Wim Van Paesschen, Jonathan J Waters, Sarah Weckhuysen, Federico Zara, Peter De Jonghe, Sanjay M. Sisodiya, Carla Marini, EuroEPINOMICS‐RES Consortium, EpiCNV Consortium
Epilepsia. 2019 Apr; 60(4): 689–706. Published online 2019 Mar 13. doi: 10.1111/epi.14683
PMCID:
PMC6488157
AbstractArticlePDF–1018K
9.
Global characterization of copy number variants in epilepsy patients from whole genome sequencing
Jean Monlong, Simon L. Girard, Caroline Meloche, Maxime Cadieux-Dion, Danielle M. Andrade, Ron G. Lafreniere, Micheline Gravel, Dan Spiegelman, Alexandre Dionne-Laporte, Cyrus Boelman, Fadi F. Hamdan, Jacques L. Michaud, Guy Rouleau, Berge A. Minassian, Guillaume Bourque, Patrick Cossette
PLoS Genet. 2018 Apr; 14(4): e1007285. Published online 2018 Apr 12. doi: 10.1371/journal.pgen.1007285
PMCID:
PMC5978987
AbstractArticlePDF–6.8M
10.
The clinical phenotype of autosomal dominant lateral temporal lobe epilepsy related to reelin mutations
Roberto Michelucci, Patrizia Pulitano, Carlo Di Bonaventura, Simona Binelli, Concetta Luisi, Elena Pasini, Salvatore Striano, Pasquale Striano, Giangennaro Coppola, Angela La Neve, Anna Teresa Giallonardo, Oriano Mecarelli, Elena Serioli, Emanuela Dazzo, Manuela Fanciulli, Carlo Nobile
Epilepsy Behav. 2017 Mar; 68: 103–107. doi: 10.1016/j.yebeh.2016.12.003
PMCID:
PMC5378904
AbstractArticle
11.
Secretion-Positive LGI1 Mutations Linked to Lateral Temporal Epilepsy Impair Binding to ADAM22 and ADAM23 Receptors
Emanuela Dazzo, Emanuela Leonardi, Elisa Belluzzi, Sandro Malacrida, Libero Vitiello, Elisa Greggio, Silvio C. E. Tosatto, Carlo Nobile
PLoS Genet. 2016 Oct; 12(10): e1006376. Published online 2016 Oct 19. doi: 10.1371/journal.pgen.1006376
PMCID:
PMC5070869
AbstractArticlePDF–2.1M
12.
Medical management of epileptic seizures: challenges and solutions
Anand K Sarma, Nabil Khandker, Lisa Kurczewski, Gretchen M Brophy
Neuropsychiatr Dis Treat. 2016; 12: 467–485. Published online 2016 Feb 24. doi: 10.2147/NDT.S80586
PMCID:
PMC4771397
AbstractArticlePDF–504K
13.
Timing, rates and spectra of human germline mutation
Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles
Nat Genet. Author manuscript; available in PMC 2016 Jun 14.
Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469
PMCID:
PMC4731925
AbstractArticlePDF–1.6M
14.
Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm
Genet Med. Author manuscript; available in PMC 2015 Nov 1.
Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30
PMCID:
PMC4544753
AbstractArticlePDF–960K
15.
The LGI1–ADAM22 protein complex directs synapse maturation through regulation of PSD-95 function
Kathryn L. Lovero, Yuko Fukata, Adam J. Granger, Masaki Fukata, Roger A. Nicoll
Proc Natl Acad Sci U S A. 2015 Jul 28; 112(30): E4129–E4137. Published online 2015 Jul 15. doi: 10.1073/pnas.1511910112
PMCID:
PMC4522810
AbstractArticlePDF–2.3M
16.
Heterozygous Reelin Mutations Cause Autosomal-Dominant Lateral Temporal Epilepsy
Emanuela Dazzo, Manuela Fanciulli, Elena Serioli, Giovanni Minervini, Patrizia Pulitano, Simona Binelli, Carlo Di Bonaventura, Concetta Luisi, Elena Pasini, Salvatore Striano, Pasquale Striano, Giangennaro Coppola, Angela Chiavegato, Slobodanka Radovic, Alessandro Spadotto, Sergio Uzzau, Angela La Neve, Anna Teresa Giallonardo, Oriano Mecarelli, Silvio C.E. Tosatto, Ruth Ottman, Roberto Michelucci, Carlo Nobile
Am J Hum Genet. 2015 Jun 4; 96(6): 992–1000. doi: 10.1016/j.ajhg.2015.04.020
PMCID:
PMC4457960
AbstractArticlePDF–1.5M
17.
LGI1 microdeletion in autosomal dominant lateral temporal epilepsy
M. Fanciulli, L. Santulli, L. Errichiello, C. Barozzi, L. Tomasi, L. Rigon, T. Cubeddu, A. de Falco, A. Rampazzo, R. Michelucci, S. Uzzau, S. Striano, F.A. de Falco, P. Striano, C. Nobile
Neurology. 2012 Apr 24; 78(17): 1299–1303. doi: 10.1212/WNL.0b013e3182518328
PMCID:
PMC3335451
AbstractArticlePDF–403K
18.
Domain-dependent clustering and genotype-phenotype analysis of LGI1 mutations in ADPEAF
Yuan-Yuan Ho, Iuliana Ionita-Laza, Ruth Ottman
Neurology. 2012 Feb 21; 78(8): 563–568. doi: 10.1212/WNL.0b013e318247ccbf
PMCID:
PMC3280014
AbstractArticlePDF–522K
19.
Evaluation of depression risk in LGI1 mutation carriers
Gary A. Heiman, Kay Kamberakis, Richard Gill, Sergey Kalachikov, Timothy A. Pedley, W. Allen Hauser, Ruth Ottman
Epilepsia. Author manuscript; available in PMC 2011 Sep 1.
Published in final edited form as: Epilepsia. 2010 Sep; 51(9): 1685–1690. Published online 2010 Jul 26. doi: 10.1111/j.1528-1167.2010.02677.x
PMCID:
PMC2939248
AbstractArticlePDF–312K
20.
Localization of a gene for partial epilepsy to chromosome 10q
Ruth Ottman, Neil Risch, W. Allen Hauser, Timothy A. Pedley, Joseph H. Lee, Christie Barker-Cummings, Anita Lustenberger, Keith J. Nagle, Kyusang S. Lee, Mark L. Scheuer, Michael Neystat, Mervyn Susser, Kirk C. Wilhelmsen
Nat Genet. Author manuscript; available in PMC 2010 Feb 17.
Published in final edited form as: Nat Genet. 1995 May; 10(1): 56–60. doi: 10.1038/ng0595-56
PMCID:
PMC2823475
AbstractArticlePDF–571K

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