Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
Am J Hum Genet
.
2021 Oct 7;108(10):2024.
doi: 10.1016/j.ajhg.2021.08.008.
Authors
Epi25 Collaborative. Electronic address: jm4279@cumc.columbia.edu
;
Epi25 Collaborative
Collaborators
Joshua E Motelow
,
Gundula Povysil
,
Ryan S Dhindsa
,
Kate E Stanley
,
Andrew S Allen
,
Yen-Chen Anne Feng
,
Daniel P Howrigan
,
Liam E Abbott
,
Katherine Tashman
,
Felecia Cerrato
,
Caroline Cusick
,
Tarjinder Singh
,
Henrike Heyne
,
Andrea E Byrnes
,
Claire Churchhouse
,
Nick Watts
,
Matthew Solomonson
,
Dennis Lal
,
Namrata Gupta
,
Benjamin M Neale
,
Gianpiero L Cavalleri
,
Patrick Cossette
,
Chris Cotsapas
,
Peter De Jonghe
,
Tracy Dixon-Salazar
,
Renzo Guerrini
,
Hakon Hakonarson
,
Erin L Heinzen
,
Ingo Helbig
,
Patrick Kwan
,
Anthony G Marson
,
Slavé Petrovski
,
Sitharthan Kamalakaran
,
Sanjay M Sisodiya
,
Randy Stewart
,
Sarah Weckhuysen
,
Chantal Depondt
,
Dennis J Dlugos
,
Ingrid E Scheffer
,
Pasquale Striano
,
Catharine Freyer
,
Roland Krause
,
Patrick May
,
Kevin McKenna
,
Brigid M Regan
,
Caitlin A Bennett
,
Costin Leu
,
Stephanie L Leech
,
Terence J O'Brien
,
Marian Todaro
,
Hannah Stamberger
,
Danielle M Andrade
,
Quratulain Zulfiqar Ali
,
Tara R Sadoway
,
Heinz Krestel
,
André Schaller
,
Savvas S Papacostas
,
Ioanna Kousiappa
,
George A Tanteles
,
Yiolanda Christou
,
Katalin Štěrbová
,
Markéta Vlčková
,
Lucie Sedláčková
,
Petra Laššuthová
,
Karl Martin Klein
,
Felix Rosenow
,
Philipp S Reif
,
Susanne Knake
,
Bernd A Neubauer
,
Friedrich Zimprich
,
Martha Feucht
,
Eva M Reinthaler
,
Wolfram S Kunz
,
Gábor Zsurka
,
Rainer Surges
,
Tobias Baumgartner
,
Randi von Wrede
,
Manuela Pendziwiat
,
Hiltrud Muhle
,
Annika Rademacher
,
Andreas van Baalen
,
Sarah von Spiczak
,
Ulrich Stephani
,
Zaid Afawi
,
Amos D Korczyn
,
Moien Kanaan
,
Christina Canavati
,
Gerhard Kurlemann
,
Karen Müller-Schlüter
,
Gerhard Kluger
,
Martin Häusler
,
Ilan Blatt
,
Johannes R Lemke
,
Ilona Krey
,
Yvonne G Weber
,
Stefan Wolking
,
Felicitas Becker
,
Stephan Lauxmann
,
Christian Boßelmann
,
Josua Kegele
,
Christian Hengsbach
,
Sarah Rau
,
Bernhard J Steinhoff
,
Andreas Schulze-Bonhage
,
Ingo Borggräfe
,
Christoph J Schankin
,
Susanne Schubert-Bast
,
Herbert Schreiber
,
Thomas Mayer
,
Rudolf Korinthenberg
,
Knut Brockmann
,
Markus Wolff
,
Dieter Dennig
,
Rene Madeleyn
,
Reetta Kälviäinen
,
Anni Saarela
,
Oskari Timonen
,
Tarja Linnankivi
,
Anna-Elina Lehesjoki
,
Sylvain Rheims
,
Gaetan Lesca
,
Philippe Ryvlin
,
Louis Maillard
,
Luc Valton
,
Philippe Derambure
,
Fabrice Bartolomei
,
Edouard Hirsch
,
Véronique Michel
,
Francine Chassoux
,
Mark I Rees
,
Seo-Kyung Chung
,
William O Pickrell
,
Robert Powell
,
Mark D Baker
,
Beata Fonferko-Shadrach
,
Charlotte Lawthom
,
Joseph Anderson
,
Natascha Schneider
,
Simona Balestrini
,
Sara Zagaglia
,
Vera Braatz
,
Michael R Johnson
,
Pauls Auce
,
Graeme J Sills
,
Larry W Baum
,
Pak C Sham
,
Stacey S Cherny
,
Colin H T Lui
,
Norman Delanty
,
Colin P Doherty
,
Arif Shukralla
,
Hany El-Naggar
,
Peter Widdess-Walsh
,
Nina Barišić
,
Laura Canafoglia
,
Silvana Franceschetti
,
Barbara Castellotti
,
Tiziana Granata
,
Francesca Ragona
,
Federico Zara
,
Michele Iacomino
,
Antonella Riva
,
Francesca Madia
,
Maria Stella Vari
,
Vincenzo Salpietro
,
Marcello Scala
,
Maria Margherita Mancardi
,
Lino Nobili
,
Elisabetta Amadori
,
Thea Giacomini
,
Francesca Bisulli
,
Tommaso Pippucci
,
Laura Licchetta
,
Raffaella Minardi
,
Paolo Tinuper
,
Lorenzo Muccioli
,
Barbara Mostacci
,
Antonio Gambardella
,
Angelo Labate
,
Grazia Annesi
,
Lorella Manna
,
Monica Gagliardi
,
Elena Parrini
,
Davide Mei
,
Annalisa Vetro
,
Claudia Bianchini
,
Martino Montomoli
,
Viola Doccini
,
Carmen Barba
,
Shinichi Hirose
,
Atsushi Ishii
,
Toshimitsu Suzuki
,
Yushi Inoue
,
Kazuhiro Yamakawa
,
Ahmad Beydoun
,
Wassim Nasreddine
,
Nathalie Khoueiry Zgheib
,
Birute Tumiene
,
Algirdas Utkus
,
Lynette G Sadleir
,
Chontelle King
,
S Hande Caglayan
,
Mutluay Arslan
,
Zuhal Yapıcı
,
Pınar Topaloglu
,
Bulent Kara
,
Uluc Yis
,
Dilsad Turkdogan
,
Aslı Gundogdu-Eken
,
Nerses Bebek
,
Sibel Uğur-İşeri
,
Betül Baykan
,
Barış Salman
,
Garen Haryanyan
,
Emrah Yücesan
,
Yeşim Kesim
,
Çiğdem Özkara
,
Meng-Han Tsai
,
Chen-Jui Ho
,
Chih-Hsiang Lin
,
Kuang-Lin Lin
,
I-Jun Chou
,
Annapurna Poduri
,
Beth R Shiedley
,
Catherine Shain
,
Jeffrey L Noebels
,
Alicia Goldman
,
Robyn M Busch
,
Lara Jehi
,
Imad M Najm
,
Lisa Ferguson
,
Jean Khoury
,
Tracy A Glauser
,
Peggy O Clark
,
Russell J Buono
,
Thomas N Ferraro
,
Michael R Sperling
,
Warren Lo
,
Michael Privitera
,
Jacqueline A French
,
Steven Schachter
,
Ruben I Kuzniecky
,
Orrin Devinsky
,
Manu Hegde
,
David A Greenberg
,
Colin A Ellis
,
Ethan Goldberg
,
Katherine L Helbig
,
Mahgenn Cosico
,
Priya Vaidiswaran
,
Eryn Fitch
,
Samuel F Berkovic
,
Holger Lerche
,
Daniel H Lowenstein
,
David B Goldstein
PMID:
34626584
PMCID:
PMC8546036
DOI:
10.1016/j.ajhg.2021.08.008
No abstract available
Publication types
Published Erratum
Grants and funding
MR/S02638X/1/MRC_/Medical Research Council/United Kingdom