Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study
Dalia Kasperavičiūtė,Claudia B. Catarino,Erin L. Heinzen,Chantal Depondt,Gianpiero L. Cavalleri,Luis O. Caboclo,Sarah K. Tate,Jenny Jamnadas-Khoda,Krishna Chinthapalli,Lisa M. S. Clayton,Kevin V. Shianna,Rodney A. Radtke,Mohamad A. Mikati,William Gallentine,Aatif M. Husain,Saud Alhusaini,David Leppert,David Leppert,Lefkos T. Middleton,Lefkos T. Middleton,Rachel A. Gibson,Marvin Johnson,Paul M. Matthews,Paul M. Matthews,David A. Hosford,Kjell Heuser,Leslie Amos,Marcos Ortega,Dominik Zumsteg,Heinz Gregor Wieser,Bernhard J. Steinhoff,Günter Krämer,Jörg Hansen,Thomas Dorn,Anne-Mari Kantanen,Leif Gjerstad,Leif Gjerstad,Terhi Peuralinna,Dena G. Hernandez,Kai Eriksson,Reetta Kälviäinen,Colin P. Doherty,Nicholas W. Wood,Massimo Pandolfo,John S. Duncan,Josemir W. Sander,Norman Delanty,David Goldstein,Sanjay M. Sisodiya +48 more
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TLDR
It is shown that, at best, common genetic variation can only have a modest role in predisposition to the partial epilepsies when considered across syndromes in Europeans, and research efforts should also be directed towards identifying the multiple rare variants likely to account for at least part of the heritability of the partial seizures.Abstract:
Partial epilepsies have a substantial heritability. However, the actual genetic causes are largely unknown. In contrast to many other common diseases for which genetic association-studies have successfully revealed common variants associated with disease risk, the role of common variation in partial epilepsies has not yet been explored in a well-powered study. We undertook a genome-wide association-study to identify common variants which influence risk for epilepsy shared amongst partial epilepsy syndromes, in 3445 patients and 6935 controls of European ancestry. We did not identify any genome-wide significant association. A few single nucleotide polymorphisms may warrant further investigation. We exclude common genetic variants with effect sizes above a modest 1.3 odds ratio for a single variant as contributors to genetic susceptibility shared across the partial epilepsies. We show that, at best, common genetic variation can only have a modest role in predisposition to the partial epilepsies when considered across syndromes in Europeans. The genetic architecture of the partial epilepsies is likely to be very complex, reflecting genotypic and phenotypic heterogeneity. Larger meta-analyses are required to identify variants of smaller effect sizes (odds ratio <1.3) or syndrome-specific variants. Further, our results suggest research efforts should also be directed towards identifying the multiple rare variants likely to account for at least part of the heritability of the partial epilepsies. Data emerging from genome-wide association-studies will be valuable during the next serious challenge of interpreting all the genetic variation emerging from whole-genome sequencing studies.read more
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Journal ArticleDOI
De novo mutations in epileptic encephalopathies
Andrew S. Allen,Samuel F. Berkovic,Patrick Cossette,Norman Delanty,Dennis J. Dlugos,Evan E. Eichler,Michael P. Epstein,Tracy A. Glauser,David Goldstein,Yujun Han,Erin L. Heinzen,Yuki Hitomi,Katherine B. Howell,Marvin Johnson,Ruben Kuzniecky,Daniel H. Lowenstein,Yi-Fan Lu,Maura Madou,Anthony G Marson,Heather C Mefford,Sahar Esmaeeli Nieh,Terence J. O'Brien,Ruth Ottman,Slavé Petrovski,Annapurna Poduri,Elizabeth K. Ruzzo,Ingrid E. Scheffer,Elliott H. Sherr,Christopher J. Yuskaitis,Bassel Abou-Khalil,Brian K. Alldredge,Jocelyn F. Bautista,Alex Boro,Gregory D. Cascino,Damian Consalvo,Patricia K. Crumrine,Orrin Devinsky,Miguel E. Fiol,Nathan B. Fountain,Jacqueline A. French,Daniel Friedman,Eric B. Geller,Simon Glynn,Sheryl R. Haut,Jean Hayward,Sandra L. Helmers,Sucheta M. Joshi,Andres M. Kanner,Heidi E. Kirsch,Robert C. Knowlton,Eric H. Kossoff,Rachel Kuperman,Shannon M. McGuire,Paul V. Motika,Edward J. Novotny,Juliann M. Paolicchi,Juliann M. Paolicchi,Jack M. Parent,Jack M. Parent,Kristen Park,Renée A. Shellhaas,Jerry J. Shih,Rani K. Singh,Joseph I Sirven,Michael C. Smith,Joseph Sullivan,Liu Lin Thio,Anu Venkat,Eileen P.G. Vining,Gretchen Von Allmen,Judith L.Z. Weisenberg,Peter Widdess-Walsh,Melodie R. Winawer +72 more
TL;DR: In this paper, a screen for de novo mutations in patients with two classical epileptic encephalopathies: infantile spasms and Lennox-Gastaut syndrome (n = 115) was performed.
Journal ArticleDOI
An Abundance of Rare Functional Variants in 202 Drug Target Genes Sequenced in 14,002 People
Matthew R. Nelson,Daniel Wegmann,Margaret G. Ehm,Darren Kessner,Pamela L. St. Jean,Claudio J. Verzilli,Judong Shen,Zheng-Zheng Tang,Silviu Alin Bacanu,Dana Fraser,Liling Warren,Jennifer L. Aponte,Matthew Zawistowski,Xiao Liu,Hao Zhang,Yong Zhang,Jun Li,Yun Li,Li Li,Peter Woollard,Simon Topp,Matthew D. Hall,Keith Nangle,Jun Wang,Gonçalo R. Abecasis,Lon R. Cardon,Sebastian Zöllner,John C. Whittaker,Stephanie L. Chissoe,John Novembre,Vincent Mooser +30 more
TL;DR: It is concluded that because of rapid population growth and weak purifying selection, human populations harbor an abundance of rare variants, many of which are deleterious and have relevance to understanding disease risk.
Journal ArticleDOI
Identification of common variants associated with human hippocampal and intracranial volumes
Jason L. Stein,Sarah E. Medland,Sarah E. Medland,Alejandro Arias Vasquez,Alejandro Arias Vasquez,Derrek P. Hibar,Rudy E Senstad,Anderson M. Winkler,Anderson M. Winkler,Roberto Toro,Roberto Toro,Katja Appel,Katja Appel,Richard Barteček,Ørjan Bergmann,Manon Bernard,Andrew A. Brown,Dara M. Cannon,M. Mallar Chakravarty,Andrea Christoforou,Andrea Christoforou,Martin Domin,Oliver Grimm,Marisa O. Hollinshead,Marisa O. Hollinshead,Avram J. Holmes,Georg Homuth,Jouke-Jan Hottenga,Camilla Langan,Lorna M. Lopez,Narelle K. Hansell,Kristy S. Hwang,Sungeun Kim,Gonzalo Laje,Phil Lee,Xinmin Liu,Xinmin Liu,Eva Loth,Anbarasu Lourdusamy,Morten Mattingsdal,Sebastian Mohnke,Susana Muñoz Maniega,Kwangsik Nho,Kwangsik Nho,Allison C. Nugent,Carol O'Brien,Martina Papmeyer,Benno Pütz,Adaikalavan Ramasamy,Jerod M. Rasmussen,Mark Rijpkema,Mark Rijpkema,Shannon L. Risacher,J. Cooper Roddey,Emma J. Rose,Mina Ryten,Li Shen,Emma Sprooten,Eric Strengman,Alexander Teumer,Daniah Trabzuni,Jessica A. Turner,Kristel R. van Eijk,Theo G.M. van Erp,Marie-José van Tol,Marie-José van Tol,Marie-José van Tol,Katharina Wittfeld,Christiane Wolf,Saskia Woudstra,André Aleman,Saud Alhusaini,Laura Almasy,Elisabeth B. Binder,David G. Brohawn,Rita M. Cantor,Melanie A. Carless,Aiden Corvin,Michael Czisch,Joanne E. Curran,Gail Davies,Marcio Almeida,Norman Delanty,Norman Delanty,Chantal Depondt,Ravi Duggirala,Thomas D. Dyer,Susanne Erk,Jesen Fagerness,Peter T. Fox,Nelson B. Freimer,Michael Gill,Harald H H Göring,Donald J. Hagler,D. Hoehn,Florian Holsboer,Martine Hoogman,Norbert Hosten,Neda Jahanshad,Matthew P. Johnson,Dalia Kasperaviciute,Jack W. Kent,Peter Kochunov,Peter Kochunov,Jack L. Lancaster,Stephen M. Lawrie,David C. Liewald,René C.W. Mandl,Mar Matarin,Manuel Mattheisen,Eva M. Meisenzahl,Ingrid Melle,Ingrid Melle,Eric K. Moses,Thomas W. Mühleisen,Matthias Nauck,Markus M. Nöthen,Rene L. Olvera,Massimo Pandolfo,G. Bruce Pike,Ralf Puls,Ivar Reinvang,Miguel E. Rentería,Miguel E. Rentería,Marcella Rietschel,Joshua L. Roffman,Natalie A. Royle,Dan Rujescu,Jonathan Savitz,Jonathan Savitz,Hugo G. Schnack,Knut Schnell,Nina Y. Seiferth,Colin Smith,Vidar M. Steen,Vidar M. Steen,Maria del C. Valdés Hernández,Martijn P. van den Heuvel,Nic J.A. van der Wee,Nic J.A. van der Wee,Neeltje E.M. van Haren,Joris A. Veltman,Henry Völzke,Robert Walker,Lars T. Westlye,Christopher D. Whelan,Ingrid Agartz,Dorret I. Boomsma,Gianpiero L. Cavalleri,Anders M. Dale,Anders M. Dale,Srdjan Djurovic,Srdjan Djurovic,Wayne C. Drevets,Wayne C. Drevets,Peter Hagoort,Peter Hagoort,Peter Hagoort,Jeremy Hall,Andreas Heinz,Clifford R. Jack,Tatiana Foroud,Stephanie Le Hellard,Stephanie Le Hellard,Fabio Macciardi,Grant W. Montgomery,Jean-Baptiste Poline,David J. Porteous,Sanjay M. Sisodiya,John M. Starr,Jessika E. Sussmann,Arthur W. Toga,Dick J. Veltman,Henrik Walter,Michael W. Weiner,Joshua C. Bis,M. Arfan Ikram,Albert V. Smith,Vilmundur Gudnason,Christophe Tzourio,Christophe Tzourio,Meike W. Vernooij,Lenore J. Launer,Charles DeCarli,Sudha Seshadri,Ole A. Andreassen,Ole A. Andreassen,Liana G. Apostolova,Mark E. Bastin,John Blangero,Han G. Brunner,Randy L. Buckner,Sven Cichon,Giovanni Coppola,Giovanni Coppola,Greig I. de Zubicaray,Ian J. Deary,Gary Donohoe,Eco J. C. de Geus,Thomas Espeseth,Thomas Espeseth,Guillén Fernández,Guillén Fernández,Guillén Fernández,David C. Glahn,David C. Glahn,Hans J. Grabe,Hans J. Grabe,John Hardy,Hilleke E. Hulshoff Pol,Mark Jenkinson,René S. Kahn,Colm McDonald,Andrew M. McIntosh,Francis J. McMahon,Katie L. McMahon,Andreas Meyer-Lindenberg,Derek W. Morris,Bertram Müller-Myhsok,Thomas E. Nichols,Thomas E. Nichols,Roel A. Ophoff,Roel A. Ophoff,Tomáš Paus,Zdenka Pausova,Brenda W.J.H. Penninx,Steven G. Potkin,Philipp G. Sämann,Andrew J. Saykin,Gunter Schumann,Jordan W. Smoller,Joanna M. Wardlaw,Michael E. Weale,Nicholas G. Martin,Barbara Franke,Barbara Franke,Margaret J. Wright,Paul M. Thompson +237 more
TL;DR: In this article, the authors report genome-wide association meta-analyses and replication for mean bilateral hippocampal, total brain and intracranial volumes from a large multinational consortium.
Journal Article
Identification of common varants associated with humanhippocampal and intracranial volumes
Jason L. Stein,Richard Barteček +1 more
TL;DR: A genome-wide association meta-analyses and replication for mean bilateral hippocampal, total brain and intracranial volumes from a large multinational consortium are reported and a suggestive association with total brain volume is identified.
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TL;DR: The International League Against Epilepsy (ILAE) Commission on Classification and Terminology has revised concepts, terminology, and approaches for classifying seizures and forms of epilepsy.
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