C
Claudia B. Catarino
Researcher at Ludwig Maximilian University of Munich
Publications - 53
Citations - 4037
Claudia B. Catarino is an academic researcher from Ludwig Maximilian University of Munich. The author has contributed to research in topics: Epilepsy & Leber's hereditary optic neuropathy. The author has an hindex of 24, co-authored 47 publications receiving 3202 citations. Previous affiliations of Claudia B. Catarino include Epilepsy Society & UCL Institute of Neurology.
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Journal ArticleDOI
Analysis of shared heritability in common disorders of the brain
Verneri Anttila,Verneri Anttila,Brendan Bulik-Sullivan,Brendan Bulik-Sullivan,Hilary K. Finucane,Raymond K. Walters,Raymond K. Walters,Jose Bras,Laramie E. Duncan,Valentina Escott-Price,Guido J. Falcone,Padhraig Gormley,Rainer Malik,Nikolaos A. Patsopoulos,Nikolaos A. Patsopoulos,Stephan Ripke,Zhi Wei,Dongmei Yu,Dongmei Yu,Phil Lee,Phil Lee,Patrick Turley,Patrick Turley,Benjamin Grenier-Boley,Benjamin Grenier-Boley,Benjamin Grenier-Boley,Vincent Chouraki,Yoichiro Kamatani,Claudine Berr,Claudine Berr,Luc Letenneur,Luc Letenneur,Didier Hannequin,Philippe Amouyel,Anne Boland,Jean-François Deleuze,Emmanuelle Duron,Badri N. Vardarajan,Christiane Reitz,Alison Goate,Matthew J. Huentelman,M. Ilyas Kamboh,Eric B. Larson,Eric B. Larson,Ekaterina Rogaeva,Peter St George-Hyslop,Peter St George-Hyslop,Hakon Hakonarson,Walter A. Kukull,Lindsay A. Farrer,Lisa L. Barnes,Thomas G. Beach,F. Yesim Demirci,Elizabeth Head,Christine M. Hulette,Gregory A. Jicha,John S. K. Kauwe,Jeffrey Kaye,James B. Leverenz,Allan I. Levey,Andrew P. Lieberman,Vernon S. Pankratz,Wayne W. Poon,Joseph F. Quinn,Joseph F. Quinn,Andrew J. Saykin,Lon S. Schneider,Amanda Smith,Joshua A. Sonnen,Joshua A. Sonnen,Robert S. Stern,Vivianna M. Van Deerlin,Linda J. Van Eldik,Denise Harold,Giancarlo Russo,David C. Rubinsztein,Anthony Bayer,Magda Tsolaki,Petra Proitsi,Nick C. Fox,Nick C. Fox,Harald Hampel,Michael John Owen,Simon Mead,Peter Passmore,Kevin Morgan,Markus M. Noethen,Martin N. Rossor,Michelle K. Lupton,Michelle K. Lupton,Per Hoffmann,Johannes Kornhuber,Brian A. Lawlor,Andrew McQuillin,Ammar Al-Chalabi,Ammar Al-Chalabi,Joshua C. Bis,Agustín Ruiz,Mercè Boada,Sudha Seshadri,Sudha Seshadri,Alexa S. Beiser,Kenneth Rice,Sven J. van der Lee,Philip L. De Jager,Daniel H. Geschwind,Matthias Riemenschneider,Steffi G. Riedel-Heller,Jerome I. Rotter,Gerhard Ransmayr,Bradley T. Hyman,Carlos Cruchaga,Montserrat Alegret,Bendik S. Winsvold,Priit Palta,Priit Palta,K.-H. Farh,K.-H. Farh,E. Cuenca-Leon,E. Cuenca-Leon,Nicholas A. Furlotte,Tobias Kurth,Lannie Ligthart,Gisela M. Terwindt,Tobias Freilinger,Tobias Freilinger,Caroline Ran,Scott D. Gordon,Guntram Borck,Hieab H.H. Adams,Terho Lehtimäki,Juho Wedenoja,Julie E. Buring,Markus Schuerks,Maria Gudlaug Hrafnsdottir,Jouke-Jan Hottenga,Brenda W.J.H. Penninx,Ville Artto,Mari A. Kaunisto,Salli Vepsäläinen,Nicholas G. Martin,Grant W. Montgomery,Grant W. Montgomery,Mitja I. Kurki,Eija Hämäläinen,Hailiang Huang,Hailiang Huang,Jie Huang,Cynthia Sandor,Caleb Webber,Caleb Webber,Bertram Müller-Myhsok,Bertram Müller-Myhsok,Stefan Schreiber,Veikko Salomaa,Elizabeth Loehrer,Hartmut Goebel,Alfons Macaya,Patricia Pozo-Rosich,Thomas Hansen,Thomas Werge,Thomas Werge,Jaakko Kaprio,Andres Metspalu,Christian Kubisch,Michel D. Ferrari,Andrea Carmine Belin,Arn M. J. M. van den Maagdenberg,John-Anker Zwart,Dorret I. Boomsma,Nicholas Eriksson,Jes Olesen,Daniel I. Chasman,Daniel I. Chasman,Dale R. Nyholt,Andreja Avbersek,Larry Baum,Samuel F. Berkovic,Jonathan P. Bradfield,Russell J. Buono,Russell J. Buono,Russell J. Buono,Claudia B. Catarino,Claudia B. Catarino,Patrick Cossette,Peter De Jonghe,Chantal Depondt,Dennis J. Dlugos,Dennis J. Dlugos,Thomas N. Ferraro,Thomas N. Ferraro,Jacqueline A. French,Helle Hjalgrim,Jennifer Jamnadas-Khoda,Jennifer Jamnadas-Khoda,Reetta Kälviäinen,Wolfram S. Kunz,Holger Lerche,Costin Leu,Dick Lindhout,Dick Lindhout,Warren D. Lo,Warren D. Lo,Daniel H. Lowenstein,Mark McCormack,Mark McCormack,Rikke S. Møller,Anne M. Molloy,Ping-Wing Ng,Karen Oliver,Michael Privitera,Rodney A. Radtke,Ann-Kathrin Ruppert,Thomas Sander,Steven C. Schachter,Steven C. Schachter,Christoph J. Schankin,Christoph J. Schankin,Ingrid E. Scheffer,Ingrid E. Scheffer,Susanne Schoch,Sanjay M. Sisodiya,Philip E. M. Smith,Michael R. Sperling,Pasquale Striano,Rainer Surges,Rainer Surges,G. Neil Thomas,Frank Visscher,Christopher D. Whelan,Federico Zara,Erin L. Heinzen,Anthony G Marson,Anthony G Marson,Felicitas Becker,H. Stroink,Fritz Zimprich,Thomas Gasser,Thomas Gasser,Raphael Gibbs,Peter Heutink,Peter Heutink,Maria Martinez,Maria Martinez,Huw R. Morris,Manu Sharma,Mina Ryten,Kin Y. Mok,Kin Y. Mok,Sara L. Pulit,Sara L. Pulit,Sara L. Pulit,Steve Bevan,Elizabeth G. Holliday,John Attia,Thomas W.K. Battey,Giorgio B. Boncoraglio,Vincent Thijs,Wei-Min Chen,Braxton D. Mitchell,Braxton D. Mitchell,Peter M. Rothwell,Pankaj Sharma,Pankaj Sharma,Cathie Sudlow,Astrid M. Vicente,Hugh S. Markus,Christina Kourkoulis,Christina Kourkoulis,Joana Pera,Miriam R. Raffeld,Scott Silliman,Vesna Boraska Perica,Laura M. Thornton,Laura M. Huckins,N. William Rayner,N. William Rayner,Cathryn M. Lewis,Mònica Gratacòs,Filip Rybakowski,Anna Keski-Rahkonen,Anu Raevuori,Anu Raevuori,James I. Hudson,Ted Reichborn-Kjennerud,Ted Reichborn-Kjennerud,Palmiero Monteleone,Andreas Karwautz,Katrin Männik,Katrin Männik,Jessica H. Baker,Julie K. O'Toole,Sara E. Trace,Oliver S. P. Davis,Sietske G. Helder,Stefan Ehrlich,Beate Herpertz-Dahlmann,Unna N. Danner,Annemarie A. van Elburg,Maurizio Clementi,Monica Forzan,Elisa Docampo,Jolanta Lissowska,Joanna Hauser,Alfonso Tortorella,Mario Maj,Fragiskos Gonidakis,Konstantinos Tziouvas,Hana Papezova,Zeynep Yilmaz,Gudrun Wagner,Sarah Cohen-Woods,Stefan Herms,Antonio Julià,Raquel Rabionet,Danielle M. Dick,Samuli Ripatti,Samuli Ripatti,Ole A. Andreassen,Ole A. Andreassen,Thomas Espeseth,Thomas Espeseth,Astri J. Lundervold,Vidar M. Steen,Vidar M. Steen,Dalila Pinto,Stephen W. Scherer,Stephen W. Scherer,Harald N. Aschauer,Alexandra Schosser,Lars Alfredsson,Leonid Padyukov,Katherine A. Halmi,James E. Mitchell,Michael Strober,Andrew W. Bergen,Walter H. Kaye,Jin P. Szatkiewicz,Bru Cormand,Josep Antoni Ramos-Quiroga,Cristina Sánchez-Mora,Cristina Sánchez-Mora,Marta Ribasés,Marta Ribasés,Miguel Casas,Amaia Hervás,Maria Arranz,Jan Haavik,Jan Haavik,Tetyana Zayats,Tetyana Zayats,Stefan Johansson,Stefan Johansson,Nigel Williams,Astrid Dempfle,Aribert Rothenberger,Jonna Kuntsi,Robert D. Oades,Tobias Banaschewski,Barbara Franke,Jan K. Buitelaar,Alejandro Arias Vasquez,Alysa E. Doyle,Andreas Reif,Klaus-Peter Lesch,Klaus-Peter Lesch,Klaus-Peter Lesch,Christine M. Freitag,Olga Rivero,Haukur Palmason,Marcel Romanos,Kate Langley,Marcella Rietschel,Stephanie H. Witt,Soeren Dalsgaard,Soeren Dalsgaard,Anders D. Børglum,Irwin D. Waldman,Beth Wilmot,Nikolas Molly,Claiton H.D. Bau,Jennifer Crosbie,Russell Schachar,Russell Schachar,Sandra K.,James J. McGough,Eugenio H. Grevet,Sarah E. Medland,Elise B. Robinson,Elise B. Robinson,Lauren A. Weiss,Elena Bacchelli,Anthony J. Bailey,Vanessa H. Bal,Agatino Battaglia,Catalina Betancur,Patrick Bolton,Rita M. Cantor,Patrícia B. S. Celestino-Soper,Geraldine Dawson,Silvia De Rubeis,Frederico Duque,Andrew Green,Andrew Green,Sabine M. Klauck,Marion Leboyer,Marion Leboyer,Pat Levitt,Pat Levitt,Elena Maestrini,Shrikant M. Mane,Daniel Moreno-De-Luca,Daniel Moreno-De-Luca,Jeremy R. Parr,Jeremy R. Parr,Jeremy R. Parr,Regina Regan,Abraham Reichenberg,Sven Sandin,Sven Sandin,Jacob A. S. Vorstman,Thomas H. Wassink,Ellen M. Wijsman,Edwin H. Cook,Susan L. Santangelo,Susan L. Santangelo,Richard Delorme,Richard Delorme,Bernadette Rogé,Bernadette Rogé,Tiago R. Magalhaes,Dan E. Arking,Thomas G. Schulze,Robert C. Thompson,Robert C. Thompson,Jana Strohmaier,Keith Matthews,Keith Matthews,Ingrid Melle,Ingrid Melle,Derek W. Morris,Douglas Blackwood,Andrew M. McIntosh,Sarah E. Bergen,Martin Schalling,Martin Schalling,Stéphane Jamain,Stéphane Jamain,Anna Maaser,Anna Maaser,Sascha B. Fischer,Sascha B. Fischer,Céline S. Reinbold,Céline S. Reinbold,Janice M. Fullerton,Janice M. Fullerton,Jose Guzman-Parra,Fermín Mayoral,Peter R. Schofield,Peter R. Schofield,Sven Cichon,Sven Cichon,Sven Cichon,Thomas W. Mühleisen,Thomas W. Mühleisen,Franziska Degenhardt,Johannes Schumacher,Michael Bauer,Philip B. Mitchell,Philip B. Mitchell,Elliot S. Gershon,John P. Rice,James B. Potash,Peter P. Zandi,Nicholas John Craddock,I. Nicol Ferrier,Martin Alda,Martin Alda,Guy A. Rouleau,Guy A. Rouleau,Gustavo Turecki,Roel A. Ophoff,Carlos N. Pato,Adebayo Anjorin,Eli A. Stahl,Eli A. Stahl,Markus Leber,Piotr M. Czerski,Cristiana Cruceanu,Ian Jones,Danielle Posthuma,Danielle Posthuma,Till F. M. Andlauer,Till F. M. Andlauer,Andreas J. Forstner,Fabian Streit,Bernhard T. Baune,Tracy Air,Grant Sinnamon,Grant Sinnamon,Naomi R. Wray,Donald J. MacIntyre,David J. Porteous,Georg Homuth,Margarita Rivera,Margarita Rivera,Jakob Grove,Christel M. Middeldorp,Christel M. Middeldorp,Christel M. Middeldorp,Ian B. Hickie,Michele L. Pergadia,Divya Mehta,Divya Mehta,Johannes H. Smit,Johannes H. Smit,Rick Jansen,Eco J. C. de Geus,Eco J. C. de Geus,Erin C. Dunn,Qingqin S. Li,Matthias Nauck,Robert A. Schoevers,Aartjan T.F. Beekman,James A. Knowles,Alexander Viktorin,Paul D. Arnold,Paul D. Arnold,Cathy L. Barr,Cathy L. Barr,Cathy L. Barr,Gabriel Bedoya-Berrio,O. Joseph Bienvenu,Helena Brentani,Christie L. Burton,Beatriz Camarena,Carolina Cappi,Danielle C. Cath,Maria Cristina Cavallini,Daniele Cusi,Sabrina M. Darrow,Damiaan Denys,Damiaan Denys,Eske M. Derks,Andrea Dietrich,Andrea Dietrich,Thomas V. Fernandez,Martijn Figee,Martijn Figee,Nelson B. Freimer,Gloria Gerber,Marco A. Grados,Erica Greenberg,Gregory L. Hanna,Andreas Hartmann,Matthew E. Hirschtritt,Pieter J. Hoekstra,Alden Y. Huang,Alden Y. Huang,Chaim Huyser,Cornelia Illmann,Michael A. Jenike,Samuel Kuperman,Bennett L. Leventhal,Christine Lochner,Gholson J. Lyon,Fabio Macciardi,Marcos Madruga-Garrido,Irene A. Malaty,Athanasios Maras,Lauren M. McGrath,Euripedes Constantino Miguel,Pablo Mir,Gerald Nestadt,Humberto Nicolini,Michael S. Okun,Andrew J. Pakstis,Peristera Paschou,John Piacentini,Christopher Pittenger,Kerstin J. Plessen,Kerstin J. Plessen,Vasily Ramensky,Eliana Marisa Ramos,Victor I. Reus,Margaret A. Richter,Margaret A. Richter,Mark A. Riddle,Mary M. Robertson,Veit Roessner,Maria Conceição do Rosário,Maria Conceição do Rosário,Jack Samuels,Paul Sandor,Paul Sandor,Dan J. Stein,Dan J. Stein,Fotis Tsetsos,Filip Van Nieuwerburgh,Sarah Weatherall,Jens R. Wendland,Tomasz Wolańczyk,Yulia Worbe,Gwyneth Zai,Fernando S. Goes,Nicole C.R. McLaughlin,Nicole C.R. McLaughlin,Paul S. Nestadt,Hans-Jörgen Grabe,Christel Depienne,Christel Depienne,Christel Depienne,Anuar Konkashbaev,Nuria Lanzagorta,Ana Victoria Valencia-Duarte,Ana Victoria Valencia-Duarte,Elvira Bramon,Nancy G. Buccola,Wiepke Cahn,Murray J. Cairns,Siow A. Chong,David Cohen,Benedicto Crespo-Facorro,Benedicto Crespo-Facorro,James J. Crowley,Michael Davidson,Lynn E. DeLisi,Lynn E. DeLisi,Timothy G. Dinan,Gary Donohoe,Elodie Drapeau,Jubao Duan,Jubao Duan,Lieuwe de Haan,David M. Hougaard,Sena Karachanak-Yankova,Andrey Khrunin,Janis Klovins,Vaidutis Kučinskas,Jimmy Lee Chee Keong,Svetlana A. Limborska,Carmel M. Loughland,Jouko Lönnqvist,Jouko Lönnqvist,Brion S. Maher,Manuel Mattheisen,Manuel Mattheisen,Colm McDonald,Kieran C. Murphy,Igor Nenadic,Jim van Os,Jim van Os,Jim van Os,Christos Pantelis,Christos Pantelis,Michele T. Pato,Tracey L. Petryshen,Tracey L. Petryshen,Digby Quested,Digby Quested,Panos Roussos,Alan R. Sanders,Alan R. Sanders,Ulrich Schall,Sibylle G. Schwab,Kang Sim,Kang Sim,Hon-Cheong So,Hon-Cheong So,Elisabeth Stoegmann,Elisabeth Stoegmann,Mythily Subramaniam,Draga Toncheva,John L. Waddington,James T.R. Walters,Mark Weiser,Mark Weiser,Wei Cheng,Robert C. Cloninger,David Curtis,David Curtis,Pablo V. Gejman,Pablo V. Gejman,Frans Henskens,Morten Mattingsdal,Sang-Yun Oh,Sang-Yun Oh,Rodney J. Scott,Rodney J. Scott,Bradley T. Webb,Gerome Breen,Claire Churchhouse,Claire Churchhouse,Cynthia M. Bulik,Cynthia M. Bulik,Mark J. Daly,Mark J. Daly,Martin Dichgans,Stephen V. Faraone,Rita Guerreiro,Peter Holmans,Kenneth S. Kendler,Bobby P. C. Koeleman,Carol A. Mathews,Alkes L. Price,Alkes L. Price,Jeremiah M. Scharf,Pamela Sklar,Julie Williams,Nicholas W. Wood,Chris Cotsapas,Chris Cotsapas,Aarno Palotie,Jordan W. Smoller,Jordan W. Smoller,Patrick F. Sullivan,Jonathan Rosand,Aiden Corvin,Aiden Corvin,Benjamin M. Neale,Benjamin M. Neale +720 more
TL;DR: It is demonstrated that, in the general population, the personality trait neuroticism is significantly correlated with almost every psychiatric disorder and migraine, and it is shown that both psychiatric and neurological disorders have robust correlations with cognitive and personality measures.
Journal ArticleDOI
Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies
Bassel Abou-Khalil,Pauls Auce,Andreja Avbersek,Melanie Bahlo,David J. Balding,Thomas Bast,Larry Baum,Albert J. Becker,Felicitas Becker,Bianca Berghuis,Samuel F. Berkovic,Katja E. Boysen,Jonathan P. Bradfield,Lawrence C. Brody,Russell J. Buono,Ellen Campbell,Gregory D. Cascino,Claudia B. Catarino,Gianpiero L. Cavalleri,Stacey S. Cherny,Krishna Chinthapalli,Alison J. Coffey,Alastair Compston,Antonietta Coppola,Patrick Cossette,John Craig,Gerrit-Jan de Haan,Peter De Jonghe,Carolien G.F. de Kovel,Norman Delanty,Chantal Depondt,Orrin Devinsky,Dennis J. Dlugos,Colin P. Doherty,Christian E. Elger,Johan G. Eriksson,Thomas N. Ferraro,Martha Feucht,Ben Francis,Andre Franke,Jacqueline A. French,Saskia Freytag,Verena Gaus,Eric B. Geller,Christian Gieger,Tracy A. Glauser,Simon Glynn,David Goldstein,Hongsheng Gui,Youling Guo,Kevin Haas,Hakon Hakonarson,Kerstin Hallmann,Sheryl R. Haut,Erin L. Heinzen,Ingo Helbig,Christian Hengsbach,Helle Hjalgrim,Michele Iacomino,Andres Ingason,Jennifer Jamnadas-Khoda,Marvin Johnson,Reetta Kälviäinen,Anne-Mari Kantanen,Dalia Kasperaviciute,Dorothée G.A. Kasteleijn-Nolst Trenité,Heidi E. Kirsch,Robert C. Knowlton,Bobby P. C. Koeleman,Roland Krause,Martin Krenn,Wolfram S. Kunz,Ruben Kuzniecky,Patrick Kwan,Dennis Lal,Yu-Lung Lau,Anna-Elina Lehesjoki,Holger Lerche,Costin Leu,Wolfgang Lieb,Dick Lindhout,Warren D. Lo,Iscia Lopes-Cendes,Daniel H. Lowenstein,Alberto Malovini,Anthony G Marson,Thomas U. Mayer,Mark McCormack,James L. Mills,Nasir Mirza,Martina Moerzinger,Rikke S. Møller,Anne M. Molloy,Hiltrud Muhle,Mark R Newton,Ping-Wing Ng,Markus M. Noethen,Peter Nuernberg,Terence J. O'Brien,Karen Oliver,Aarno Palotie,Faith Pangilinan,Sarah Peter,Slavé Petrovski,Annapurna Poduri,Michael Privitera,Rodney A. Radtke,Sarah Rau,Philipp S. Reif,Eva M. Reinthaler,Felix Rosenow,Josemir W. Sander,Thomas Sander,Theresa Scattergood,Steven C. Schachter,Christoph J. Schankin,Ingrid E. Scheffer,Bettina Schmitz,Susanne Schoch,Pak C. Sham,Jerry J. Shih,Graeme J. Sills,Sanjay M. Sisodiya,Lisa Slattery,Alexander R. H. Smith,David F. Smith,Mike Smith,Philip E. M. Smith,Anja C M Sonsma,Doug Speed,Michael R. Sperling,Bernhard J. Steinhoff,Ulrich Stephani,Remi Stevelink,Konstantin Strauch,Pasquale Striano,H. Stroink,Rainer Surges,K. Meng Tan,Liu Lin Thio,G. Neil Thomas,Marian Todaro,Rossana Tozzi,Maria Stella Vari,Eileen P.G. Vining,Frank Visscher,Sarah von Spiczak,Nicole M. Walley,Yvonne G. Weber,Zhi Wei,Judith L.Z. Weisenberg,Christopher D. Whelan,Peter Widdess-Walsh,Markus Wolff,Stefan Wolking,Wanling Yang,Federico Zara,Fritz Zimprich,Int League Against Epilepsy Conso +158 more
TL;DR: The authors perform genome-wide association studies for 3 broad and 7 subtypes of epilepsy and identify 16 loci - 11 novel - that are further annotated by eQTL and partitioned heritability analyses that provide leads for epilepsy therapies based on underlying pathophysiology.
Journal ArticleDOI
Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies
Richard Anney,Andreja Avbersek,David J. Balding,Larry Baum,Felicitas Becker,Samuel F. Berkovic,Jonathan P. Bradfield,Lawrence C. Brody,Russell J. Buono,Claudia B. Catarino,Gianpiero L. Cavalleri,Stacey S. Cherny,Krishna Chinthapalli,Alison J. Coffey,Alastair Compston,Patrick Cossette,G-J. de Haan,P. De Jonghe,C. G. F. de Kovel,Norman Delanty,Chantal Depondt,Dennis J. Dlugos,Colin P. Doherty,Christian E. Elger,Thomas N. Ferraro,Martha Feucht,Andre Franke,Jacqueline A. French,Verena Gaus,David Goldstein,Hongsheng Gui,Youling Guo,Hakon Hakonarson,K. Hallman,Erin L. Heinzen,Ingo Helbig,H. Hjalgrim,Matilda R. Jackson,Jenny Jamnadas-Khoda,D. Janz,Marvin Johnson,Reetta Kälviäinen,A-M. Kantanen,Dalia Kasperaviciute,D. Kasteleijn-Nolst Trenite,Bobby P. C. Koeleman,Wolfram S. Kunz,Patrick Kwan,Y. Lung Lau,A E Lehesjoki,Holger Lerche,Costin Leu,Wolfgang Lieb,Dick Lindhout,Warren D. Lo,Daniel H. Lowenstein,Alberto Malovini,Anthony G Marson,Mark McCormack,J. M. Mills,M. Moerzinger,Rikke S. Møller,Anne M. Molloy,Hiltrud Muhle,Mark R Newton,P-W. Ng,Markus M. Nöthen,Peter Nürnberg,Terence J. O'Brien,Karen Oliver,A. Palotie,Faith Pangilinan,Katharina Pernhorst,Slavé Petrovski,Michael Privitera,Rodney A. Radtke,Philipp S. Reif,Felix Rosenow,A-K. Ruppert,Thomas Sander,Theresa Scattergood,Steven C. Schachter,Christoph J. Schankin,Ingrid E. Scheffer,Bettina Schmitz,Susanne Schoch,PC Sham,SM Sisodiya,David F. Smith,Philip E. M. Smith,Doug Speed,Michael R. Sperling,Michael Steffens,U. Stephanie,Pasquale Striano,H. Stroink,Rainer Surges,K. M. Tan,GN Thomas,Matilde Todaro,Anna Tostevin,Rossana Tozzi,Holger Trucks,Frank Visscher,S. von Spiczak,Nicole M. Walley,Yvonne G. Weber,Zhi Wei,Christopher D. Whelan,W. Yang,Federico Zara,Fritz Zimprich +111 more
TL;DR: This meta-analysis describes a new locus not previously implicated in epilepsy and provides further evidence about the genetic architecture of these disorders, with the ultimate aim of assisting in disease classification and prognosis.
Journal ArticleDOI
Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes.
Erin L. Heinzen,Rodney A. Radtke,Thomas J. Urban,Gianpiero L. Cavalleri,Chantal Depondt,Anna C. Need,Nicole M. Walley,Paola Nicoletti,Dongliang Ge,Claudia B. Catarino,John S. Duncan,Dalia Kasperaviciūte,Sarah K. Tate,Luis O. Caboclo,Josemir W. Sander,Lisa M. S. Clayton,Kristen N. Linney,Kevin V. Shianna,Curtis Gumbs,Jason Smith,Kenneth D. Cronin,Jessica M. Maia,Colin P. Doherty,Massimo Pandolfo,David Leppert,David Leppert,Lefkos T. Middleton,Rachel A. Gibson,Marvin Johnson,Marvin Johnson,Paul M. Matthews,Paul M. Matthews,David A. Hosford,Reetta Kälviäinen,Kai Eriksson,Anne-Mari Kantanen,Thomas Dorn,Jörg Hansen,Günter Krämer,Bernhard J. Steinhoff,Heinz Gregor Wieser,Dominik Zumsteg,Marcos Ortega,Nicholas W. Wood,Julie Huxley-Jones,Mohamad A. Mikati,William Gallentine,Aatif M. Husain,Patrick G. Buckley,Raymond L. Stallings,Mihai V. Podgoreanu,Norman Delanty,Sanjay M. Sisodiya,David Goldstein +53 more
TL;DR: Genome-wide screens to identify copy number variation in patients with a diverse spectrum of epilepsy syndromes and in neurologically-normal controls implicate 16p13.11 and possibly other large deletions as risk factors for a wide range of epilepsy disorders, and they appear to point toward haploinsufficiency as a contributor to the pathogenicity of deletions.
Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes
Erin L. Heinzen,Rodney A. Radtke,Thomas J. Urban,Gianpiero L. Cavalleri,Chantal Depondt,Anna C. Need,Nicole M. Walley,Paola Nicoletti,Dongliang Ge,Claudia B. Catarino,John S. Duncan,Sarah K. Tate,Luís Otávio Sales Ferreira Caboclo,Josemir W. Sander,Kristen N. Linney,Kevin V. Shianna,Curtis Gumbs,Jason Smith,Kenneth D. Cronin,Jessica M. Maia,Colin P. Doherty,Massimo Pandolfo,David Leppert,Lefkos T. Middleton,Rachel A. Gibson,Marvin Johnson,Paul M. Matthews,Bernhard J. Steinhoff,Nicholas W. Wood,Mohamad A. Mikati,William Gallentine,Aatif M. Husain,Patrick G. Buckley,Raymond L. Stallings,Mihai V. Podgoreanu,Norman Delanty,Sanjay M. Sisodiya,David Goldstein +37 more
TL;DR: In this paper, the role of 16p13.11 deletions, as well as other structural variation, in epilepsy disorders, was evaluated using genome-wide screens to identify copy number variation in 3812 patients with a diverse spectrum of epilepsy syndromes and in 1299 neurologically normal controls.