Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3
Rahel T. Florian(University of Duisburg-Essen), Laura Licchetta(Istituto delle Scienze Neurologiche di Bologna), Elsa Leitão(University of Duisburg-Essen), Haloom Rafehi(The University of Melbourne), Bernard Jost(Centre National de la Recherche Scientifique), Boris Keren(Sorbonne Université), Ludmila Jornéa(Centre National de la Recherche Scientifique), Renzo Guerrini(Meyer Children's Hospital), Marie Vidailhet(Centre National de la Recherche Scientifique), Christos Ganos(Charité - Universitätsmedizin Berlin), Sebastian Gießelmann(Jena University Hospital), Éloi Magnin(Centre Hospitalier Universitaire de Besançon), Vincent Meyer(Commissariat à l'Énergie Atomique et aux Énergies Alternatives), Sabine Kaya(University of Duisburg-Essen), Ingo Kurth(Universität Hamburg), Regina Kubica(University of Duisburg-Essen), Delphine Bouteiller(Centre National de la Recherche Scientifique), Julien Buratti(Sorbonne Université), Mario Davide Maria Avarello(Genomic Vision (France)), Stephan Klebe(Essen University Hospital), Lisanne S. Vijfhuizen(Leiden University Medical Center), Felix Rosenow(Goethe University Frankfurt), Florian Kraft(RWTH Aachen University), Anaide Lamiral(Centre Hospitalier Universitaire de Besançon), Lionel Thivard(Sorbonne Université), Laura Canafoglia(Fondazione IRCCS Istituto Neurologico Carlo Besta), Caroline Nava(Centre National de la Recherche Scientifique), Francesco Brancati(Piaggio (Italy)), Gabrielle Rudolf(Centre National de la Recherche Scientifique), Yannick Delpu(Genomic Vision (France)), Theresa Kühnel(University of Duisburg-Essen), Jean‐François Deleuze(Commissariat à l'Énergie Atomique et aux Énergies Alternatives), Bernhard Horsthemke(University of Duisburg-Essen), Sylvie Forlani(Centre National de la Recherche Scientifique), Samuel F. Berkovic(The University of Melbourne), Thessa Kroes(The University of Adelaide), Anne‐Fleur van Rootselaar(Amsterdam Neuroscience), Nikolai Tschernoster(University of Cologne), Giorgio Casari(IRCCS Ospedale San Raffaele), Thomas Bourgeron(Centre National de la Recherche Scientifique), Édouard Hirsch(Inserm), Tao Ye(Institut de génétique et de biologie moléculaire et cellulaire), Alexandre Mathieu(Centre National de la Recherche Scientifique), Christopher Schröder(University of Duisburg-Essen), Francesca Bisulli(Istituto delle Scienze Neurologiche di Bologna), Laura Steenpaß(University of Duisburg-Essen), Hiroyuki Ishiura(University of Tokyo Hospital), Damien Plassard(Centre National de la Recherche Scientifique), Janine Altmueller(University of Cologne), Philipp S. Reif(Goethe University Frankfurt)
Cited by 170
Related Papers
<scp>ILAE</scp> classification of the epilepsies: Position paper of the <scp>ILAE</scp> Commission for Classification and Terminology
|Epilepsia|2017|4.9k
Analysis of shared heritability in common disorders of the brain
|Science|2018|2k
The clinicopathologic spectrum of focal cortical dysplasias: A consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission1
|Epilepsia|2010|1.7k
A Potassium Channel Mutation in Neonatal Human Epilepsy
|Science|1998|1.1k