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

Familial cortical myoclonic tremor (FAME) has so far been mapped to regions on chromosome 2, 3, 5 and 8 and pentameric repeat expansions in SAMD12 were identified as cause of FAME1. Here, Corbett et al. identify ATTTT/ATTTC repeat expansions in intron 1 of STARD7 in individuals with FAME2.”

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Autores principales:	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
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2019
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/752a22f841ae41c284ab977e7ffdeead
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spelling	oai:doaj.org-article:752a22f841ae41c284ab977e7ffdeead2021-12-02T16:57:41ZIntronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 210.1038/s41467-019-12671-y2041-1723https://doaj.org/article/752a22f841ae41c284ab977e7ffdeead2019-10-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-12671-yhttps://doaj.org/toc/2041-1723Familial cortical myoclonic tremor (FAME) has so far been mapped to regions on chromosome 2, 3, 5 and 8 and pentameric repeat expansions in SAMD12 were identified as cause of FAME1. Here, Corbett et al. identify ATTTT/ATTTC repeat expansions in intron 1 of STARD7 in individuals with FAME2.”Mark A. CorbettThessa KroesLiana VenezianoMark F. BennettRahel FlorianAmy L. SchneiderAntonietta CoppolaLaura LicchettaSilvana FranceschettiAntonio SuppaAaron WengerDavide MeiManuela PendziwiatSabine KayaMassimo DelledonneRachel StraussbergLuciano XumerleBrigid ReganDouglas CromptonAnne-Fleur van RootselaarAnthony CorrellRachael CatfordFrancesca BisulliShreyasee ChakrabortySara BaldassariPaolo TinuperKirston BartonShaun CarswellMartin SmithAlfredo BerardelliRenee CarrollAlison GardnerKathryn L. FriendIlan BlattMichele IacominoCarlo Di BonaventuraSalvatore StrianoJulien BurattiBoris KerenCaroline NavaSylvie ForlaniGabrielle RudolfEdouard HirschEric LeguernPierre LabaugeSimona BalestriniJosemir W. SanderZaid AfawiIngo HelbigHiroyuki IshiuraShoji TsujiSanjay M. SisodiyaGiorgio CasariLynette G. SadleirRiaan van CollerMarina A. J. TijssenKarl Martin KleinArn M. J. M. van den MaagdenbergFederico ZaraRenzo GuerriniSamuel F. BerkovicTommaso PippucciLaura CanafogliaMelanie BahloPasquale StrianoIngrid E. SchefferFrancesco BrancatiChristel DepienneJozef GeczNature PortfolioarticleScienceQENNature Communications, Vol 10, Iss 1, Pp 1-10 (2019)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q 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 Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
description	Familial cortical myoclonic tremor (FAME) has so far been mapped to regions on chromosome 2, 3, 5 and 8 and pentameric repeat expansions in SAMD12 were identified as cause of FAME1. Here, Corbett et al. identify ATTTT/ATTTC repeat expansions in intron 1 of STARD7 in individuals with FAME2.”
format	article
author	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
author_facet	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
author_sort	Mark A. Corbett
title	Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
title_short	Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
title_full	Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
title_fullStr	Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
title_full_unstemmed	Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
title_sort	intronic atttc repeat expansions in stard7 in familial adult myoclonic epilepsy linked to chromosome 2
publisher	Nature Portfolio
publishDate	2019
url	https://doaj.org/article/752a22f841ae41c284ab977e7ffdeead
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Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

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