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Select item 108997831.

Dimeric structures of DNA ATTTC repeats promoted by divalent cations

Marko Trajkovski, Annalisa Pastore, Janez Plavec

Nucleic Acids Res. 2024 Feb 28; 52(4): 1591–1601. Published online 2024 Jan 31. doi: 10.1093/nar/gkae052

PMCID:: PMC10899783

Abstract Article PDF–1.4M

Select item 108639252.

Seizures and electrophysiological features in familial cortical myoclonic tremor with epilepsy 1

Yao Ding, Zhidong Cen, Yang Zheng, Xia Qiu, Yumao Ye, Xinhui Chen, Lingli Hu, Bo Wang, Zhongjin Wang, Houmin Yin, Chunhong Shen, Wenjie Ming, Yi Ge, Fei Xie, Dehao Yang, Zhiyuan Ouyang, Haotian Wang, Sheng Wu, Meiping Ding, Shuang Wang, Wei Luo

Ann Clin Transl Neurol. 2024 Feb; 11(2): 414–423. Published online 2023 Dec 7. doi: 10.1002/acn3.51961

PMCID:: PMC10863925

Abstract Article PDF–1.3M

Select item 102355823.

A registry for Dravet syndrome: The Italian experience

Simona Balestrini, Viola Doccini, Sabrina Giometto, Ersilia Lucenteforte, Salvatore De Masi, Elisa Giarola, Isabella Brambilla, Federica Pieroni, Marco Perulli, Domenica Battaglia, Nicola Specchio, Francesca Ragona, Tiziana Granata, Simona Pellacani, Annarita Ferrari, Carla Marini, Sara Matricardi, Elisabetta Cesaroni, Lucio Giordano, Patrizia Accorsi, Vittorio Sciruicchio, Paolo Tinuper, Tullio Messana, Angelo Russo, Dario Pruna, Margherita Nosadini, Valentina De Giorgis, Davide Caputo, Residras Collaboration Group, Serena Pellegrin, Tommaso Lo Barco, Francesca Darra, Bernardo Dalla Bernardina, Renzo Guerrini

Epilepsia Open. 2023 Jun; 8(2): 517–534. Published online 2023 Mar 30. doi: 10.1002/epi4.12730

PMCID:: PMC10235582

Abstract Article PDF–3.5M

Select item 95224624.

Investigation of MicroRNA-134 as a Target against Seizures and SUDEP in a Mouse Model of Dravet Syndrome

Rogério R. Gerbatin, Joana Augusto, Gareth Morris, Aoife Campbell, Jesper Worm, Elena Langa, Cristina R. Reschke, David C. Henshall

eNeuro. 2022 Sep-Oct; 9(5): ENEURO.0112-22.2022. Prepublished online 2022 Sep 6. Published online 2022 Sep 23. doi: 10.1523/ENEURO.0112-22.2022

PMCID:: PMC9522462

Abstract Article PDF–1.7M

Select item 92919745.

Defining Dravet syndrome: An essential pre‐requisite for precision medicine trials

Wenhui Li, Amy L. Schneider, Ingrid E. Scheffer

Epilepsia. 2021 Sep; 62(9): 2205–2217. Published online 2021 Aug 2. doi: 10.1111/epi.17015

PMCID:: PMC9291974

Abstract Article PDF–1.5M

Select item 86334736.

Late diagnoses of Dravet syndrome: How many individuals are we missing?

Katri Silvennoinen, Clinda Puvirajasinghe, Kirsty Hudgell, Meneka K. Sidhu, Helena Martins Custodio, Genomics England Research Consortium , Wendy D. Jones, Simona Balestrini, Sanjay M. Sisodiya

Epilepsia Open. 2021 Dec; 6(4): 770–776. Published online 2021 Aug 5. doi: 10.1002/epi4.12525

PMCID:: PMC8633473

Abstract Article PDF–168K

Select item 84549217.

Seizure Phenotype and Underlying Cellular Defects in Drosophila Knock-In Models of DS (R1648C) and GEFS+ (R1648H) SCN1A Epilepsy

Alexa Joanna Roemmich, Thy Vu, Tamas Lukacsovich, Charlesice Hawkins, Soleil S. Schutte, Diane K. O’Dowd

eNeuro. 2021 Sep-Oct; 8(5): ENEURO.0002-21.2021. Prepublished online 2021 Sep 2. Published online 2021 Sep 20. doi: 10.1523/ENEURO.0002-21.2021

PMCID:: PMC8454921

Abstract Article PDF–2.9M

Select item 84367688.

Progressive myoclonus epilepsy KCNC1 variant causes a developmental dendritopathy

Jenna C. Carpenter, Roope Männikkö, Catherine Heffner, Jana Heneine, Marisol Sampedro‐Castañeda, Gabriele Lignani, Stephanie Schorge

Epilepsia. 2021 May; 62(5): 1256–1267. Published online 2021 Mar 18. doi: 10.1111/epi.16867

PMCID:: PMC8436768

Abstract Article PDF–1.8M

Select item 79183409.

Clinical and genomic analysis of a large Chinese family with familial cortical myoclonic tremor with epilepsy and SAMD12 intronic repeat expansion

Yongxing Zhou, Raman Sood, Qun Wang, Blake Carrington, Morgan Park, Alice C. Young, Daniel Birnbaum, Zhao Liu, Tetsuo Ashizawa, James C. Mullikin, Mohamad Z. Koubeissi, Paul Liu

Epilepsia Open. 2021 Mar; 6(1): 102–111. Published online 2021 Feb 2. doi: 10.1002/epi4.12450

PMCID:: PMC7918340

Abstract Article PDF–848K

Select item 728844910.

7q35 Microdeletion and 15q13.3 and Xp22.33 Microduplications in a Patient with Severe Myoclonic Epilepsy, Microcephaly, Dysmorphisms, Severe Psychomotor Delay and Intellectual Disability

Francesco Paduano, Emma Colao, Sara Loddo, Valeria Orlando, Francesco Trapasso, Antonio Novelli, Nicola Perrotti, Rodolfo Iuliano

Genes (Basel) 2020 May; 11(5): 525. Published online 2020 May 8. doi: 10.3390/genes11050525

PMCID:: PMC7288449

Abstract Article PDF–5.4M

Select item 726175511.

A familial t(4;8) translocation segregates with epilepsy and migraine with aura

Milena Crippa, Paola Malatesta, Maria Teresa Bonati, Francesco Trapasso, Francesco Fortunato, Grazia Annesi, Lidia Larizza, Angelo Labate, Palma Finelli, Nicola Perrotti, Antonio Gambardella

Ann Clin Transl Neurol. 2020 May; 7(5): 855–859. Published online 2020 Apr 21. doi: 10.1002/acn3.51040

PMCID:: PMC7261755

Abstract Article PDF–729K

Select item 711857512.

De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy

Kohei Hamanaka, Eri Imagawa, Eriko Koshimizu, Satoko Miyatake, Jun Tohyama, Takanori Yamagata, Akihiko Miyauchi, Nina Ekhilevitch, Fumio Nakamura, Takeshi Kawashima, Yoshio Goshima, Ahmad Rithauddin Mohamed, Gaik-Siew Ch'ng, Atsushi Fujita, Yoshiteru Azuma, Ken Yasuda, Shintaro Imamura, Mitsuko Nakashima, Hirotomo Saitsu, Satomi Mitsuhashi, Takeshi Mizuguchi, Atsushi Takata, Noriko Miyake, Naomichi Matsumoto

Am J Hum Genet. 2020 Apr 2; 106(4): 549–558. Published online 2020 Mar 12. doi: 10.1016/j.ajhg.2020.02.011

PMCID:: PMC7118575

Abstract Article PDF–1.3M

Select item 682077913.

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

Mark A. Corbett, Thessa Kroes, Liana Veneziano, Mark F. Bennett, Rahel Florian, Amy L. Schneider, Antonietta Coppola, Laura Licchetta, Silvana Franceschetti, Antonio Suppa, Aaron Wenger, Davide Mei, Manuela Pendziwiat, Sabine Kaya, Massimo Delledonne, Rachel Straussberg, Luciano Xumerle, Brigid Regan, Douglas Crompton, Anne-Fleur van Rootselaar, Anthony Correll, Rachael Catford, Francesca Bisulli, Shreyasee Chakraborty, Sara Baldassari, Paolo Tinuper, Kirston Barton, Shaun Carswell, Martin Smith, Alfredo Berardelli, Renee Carroll, Alison Gardner, Kathryn L. Friend, Ilan Blatt, Michele Iacomino, Carlo Di Bonaventura, Salvatore Striano, Julien Buratti, Boris Keren, Caroline Nava, Sylvie Forlani, Gabrielle Rudolf, Edouard Hirsch, Eric Leguern, Pierre Labauge, Simona Balestrini, Josemir W. Sander, Zaid Afawi, Ingo Helbig, Hiroyuki Ishiura, Shoji Tsuji, Sanjay M. Sisodiya, Giorgio Casari, Lynette G. Sadleir, Riaan van Coller, Marina A. J. Tijssen, Karl Martin Klein, Arn M. J. M. van den Maagdenberg, Federico Zara, Renzo Guerrini, Samuel F. Berkovic, Tommaso Pippucci, Laura Canafoglia, Melanie Bahlo, Pasquale Striano, Ingrid E. Scheffer, Francesco Brancati, Christel Depienne, Jozef Gecz

Nat Commun. 2019; 10: 4920. Published online 2019 Oct 29. doi: 10.1038/s41467-019-12671-y

PMCID:: PMC6820779

Abstract Article PDF–1.8M

Select item 634034014.

SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy

Danique R.M. Vlaskamp, Benjamin J. Shaw, Rosemary Burgess, Davide Mei, Martino Montomoli, Han Xie, Candace T. Myers, Mark F. Bennett, Wenshu XiangWei, Danielle Williams, Saskia M. Maas, Alice S. Brooks, Grazia M.S. Mancini, Ingrid M.B.H. van de Laar, Johanna M. van Hagen, Tyson L. Ware, Richard I. Webster, Stephen Malone, Samuel F. Berkovic, Renate M. Kalnins, Federico Sicca, G. Christoph Korenke, Conny M.A. van Ravenswaaij-Arts, Michael S. Hildebrand, Heather C. Mefford, Yuwu Jiang, Renzo Guerrini, Ingrid E. Scheffer

Neurology. 2019 Jan 8; 92(2): e96–e107. doi: 10.1212/WNL.0000000000006729

Correction in:: Neurology. 2019 Nov 12; 93(20): 908.

PMCID:: PMC6340340

Abstract Article PDF–1.3M

Select item 628840515.

Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies

Gemma L. Carvill, Krysta L. Engel, Aishwarya Ramamurthy, J. Nicholas Cochran, Jolien Roovers, Hannah Stamberger, Nicholas Lim, Amy L. Schneider, Georgie Hollingsworth, Dylan H. Holder, Brigid M. Regan, James Lawlor, Lieven Lagae, Berten Ceulemans, E. Martina Bebin, John Nguyen, EuroEPINOMICS Rare Epilepsy Syndrome, Myoclonic-Astatic Epilepsy, and Dravet Working Group, Gregory S. Barsh, Sarah Weckhuysen, Miriam Meisler, Samuel F. Berkovic, Peter De Jonghe, Ingrid E. Scheffer, Richard M. Myers, Gregory M. Cooper, Heather C. Mefford

Am J Hum Genet. 2018 Dec 6; 103(6): 1022–1029. Published online 2018 Dec 6. doi: 10.1016/j.ajhg.2018.10.023

PMCID:: PMC6288405

Abstract Article PDF–756K

Select item 602121816.

The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant

Nicolas Chatron, Rikke S. Møller, Neena L. Champaigne, Amy L. Schneider MGenCouns, Alma Kuechler, Audrey Labalme, Thomas Simonet, Lauren Baggett, Claire Bardel, Erik-Jan Kamsteeg, Rolph Pfundt, Corrado Romano, Johan Aronsson, Antonino Alberti, Mirella Vinci, Maria J. Miranda, Amy Lacroix, Dragan Marjanovic, Vincent des Portes, Patrick Edery, Dagmar Wieczorek, Elena Gardella, Ingrid E. Scheffer, Heather Mefford, Damien Sanlaville, Gemma L. Carvill, Gaetan Lesca

Ann Neurol. Author manuscript; available in PMC 2019 May 1.

Published in final edited form as: Ann Neurol. 2018 May; 83(5): 926–934. Published online 2018 Apr 30. doi: 10.1002/ana.25222

PMCID:: PMC6021218

Abstract Article PDF–1.5M

Select item 591268817.

Defining the phenotypic spectrum of SLC6A1 mutations

Katrine M. Johannesen, Elena Gardella, Tarja Linnankivi, Carolina Courage, Anne de Saint Martin, Anna-Elina Lehesjoki, Cyril Mignot, Alexandra Afenjar, Gaetan Lesca, Marie-Thérèse Abi-Warde, Jamel Chelly, Amélie Piton|, J. Lawrence Merritt, II, Lance H. Rodan, Wen-Hann Tan, Lynne M. Bird, Mark Nespeca, Joseph G. Gleeson, Yongjin Yoo, Murim Choi, Jong-Hee Chae, Desiree Czapansky-Beilman, Sara Chadwick Reichert, Manuela Pendziwiat, Judith S. Verhoeven, Helenius J. Schelhaas, Orrin Devinsky, Jakob Christensen, Nicola Specchio, Marina Trivisano, Yvonne G. Weber, Caroline Nava, Boris Keren, Diane Doummar, Elise Schaefer, Sarah Hopkins, Holly Dubbs, Jessica E. Shaw, Laura Pisani, Candace T. Myers, Sha Tang, Shan Tang, Deb K. Pal, John J. Millichap, Gemma L. Carvill, Kathrine L. Helbig, Oriano Mecarelli, Pasquale Striano, Ingo Helbig, Guido Rubboli, Heather C. Mefford, Rikke S. Møller

Epilepsia. Author manuscript; available in PMC 2019 Feb 1.

Published in final edited form as: Epilepsia. 2018 Feb; 59(2): 389–402. Published online 2018 Jan 8. doi: 10.1111/epi.13986

PMCID:: PMC5912688

Abstract Article PDF–935K

Select item 543790918.

Loss of Function of KCNC1 is associated with intellectual disability without seizures

Karine Poirier, Géraldine Viot, Laura Lombardi, Clémence Jauny, Pierre Billuart, Thierry Bienvenu

Eur J Hum Genet. 2017 May; 25(5): 560–564. Published online 2017 Feb 1. doi: 10.1038/ejhg.2017.3

PMCID:: PMC5437909

Abstract Article PDF–391K

Select item 538483319.

Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations

Valentina Cetica, Sara Chiari, Davide Mei, Elena Parrini, Laura Grisotto, Carla Marini, Daniela Pucatti, Annarita Ferrari, Federico Sicca, Nicola Specchio, Marina Trivisano, Domenica Battaglia, Ilaria Contaldo, Nelia Zamponi, Cristina Petrelli, Tiziana Granata, Francesca Ragona, Giuliano Avanzini, Renzo Guerrini

Neurology. 2017 Mar 14; 88(11): 1037–1044. doi: 10.1212/WNL.0000000000003716

PMCID:: PMC5384833

Abstract Article PDF–755K

Select item 534408320.

Dysarthria and broader motor speech deficits in Dravet syndrome

Samantha J. Turner, Amy Brown, Marta Arpone, Vicki Anderson, Angela T. Morgan, Ingrid E. Scheffer

Neurology. 2017 Feb 21; 88(8): 743–749. doi: 10.1212/WNL.0000000000003635

PMCID:: PMC5344083

Abstract Article PDF–351K

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