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Showing 1–16 of 16 results
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Research | | Open
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Research |
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns
- Hannah Stamberger
- , Trine B. Hammer
- , Elena Gardella
- , Danique R. M. Vlaskamp
- , Birgitte Bertelsen
- , Simone Mandelstam
- , Iris de Lange
- , Jing Zhang
- , Candace T. Myers
- , Christina Fenger
- , Zaid Afawi
- , Edith P. Almanza Fuerte
- , Danielle M. Andrade
- , Yunus Balcik
- , Bruria Ben Zeev
- , Mark F. Bennett
- , Samuel F. Berkovic
- , Bertrand Isidor
- , Arjan Bouman
- , Eva Brilstra
- , Øyvind L. Busk
- , Anita Cairns
- , Roseline Caumes
- , Nicolas Chatron
- , Russell C. Dale
- , Christa de Geus
- , Patrick Edery
- , Deepak Gill
- , Jacob Bie Granild-Jensen
- , Lauren Gunderson
- , Boudewijn Gunning
- , Gali Heimer
- , Johan R. Helle
- , Michael S. Hildebrand
- , Georgie Hollingsworth
- , Volodymyr Kharytonov
- , Eric W. Klee
- , Bobby P. C. Koeleman
- , David A. Koolen
- , Christian Korff
- , Sébastien Küry
- , Gaetan Lesca
- , Dorit Lev
- , Richard J. Leventer
- , Mark T. Mackay
- , Erica L. Macke
- , Meriel McEntagart
- , Shekeeb S. Mohammad
- , Pauline Monin
- , Martino Montomoli
- , Eva Morava
- , Sebastien Moutton
- , Alison M. Muir
- , Elena Parrini
- , Peter Procopis
- , Emmanuelle Ranza
- , Laura Reed
- , Philipp S. Reif
- , Felix Rosenow
- , Massimiliano Rossi
- , Lynette G. Sadleir
- , Tara Sadoway
- , Helenius J. Schelhaas
- , Amy L. Schneider
- , Krati Shah
- , Ruth Shalev
- , Sanjay M. Sisodiya
- , Thomas Smol
- , Connie T. R. M. Stumpel
- , Kyra Stuurman
- , Joseph D. Symonds
- , Frederic Tran Mau-Them
- , Nienke Verbeek
- , Judith S. Verhoeven
- , Geoffrey Wallace
- , Keren Yosovich
- , Yuri A. Zarate
- , Ayelet Zerem
- , Sameer M. Zuberi
- , Renzo Guerrini
- , Heather C. Mefford
- , Chirag Patel
- , Yue-Hua Zhang
- , Rikke S. Møller
- & Ingrid E. Scheffer
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Research | | Open
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Research | | Open
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Research | | Open
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Research | | Open
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15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
- Ingo Helbig
- , Heather C Mefford
- , Andrew J Sharp
- , Michel Guipponi
- , Marco Fichera
- , Andre Franke
- , Hiltrud Muhle
- , Carolien de Kovel
- , Carl Baker
- , Sarah von Spiczak
- , Katherine L Kron
- , Ines Steinich
- , Ailing A Kleefuß-Lie
- , Costin Leu
- , Verena Gaus
- , Bettina Schmitz
- , Karl M Klein
- , Philipp S Reif
- , Felix Rosenow
- , Yvonne Weber
- , Holger Lerche
- , Fritz Zimprich
- , Lydia Urak
- , Karoline Fuchs
- , Martha Feucht
- , Pierre Genton
- , Pierre Thomas
- , Frank Visscher
- , Gerrit-Jan de Haan
- , Rikke S Møller
- , Helle Hjalgrim
- , Daniela Luciano
- , Michael Wittig
- , Michael Nothnagel
- , Christian E Elger
- , Peter Nürnberg
- , Corrado Romano
- , Alain Malafosse
- , Bobby P C Koeleman
- , Dick Lindhout
- , Ulrich Stephani
- , Stefan Schreiber
- , Evan E Eichler
- & Thomas Sander
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Research | | Open
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3
- Rahel T. Florian
- , Florian Kraft
- , Elsa Leitão
- , Sabine Kaya
- , Stephan Klebe
- , Eloi Magnin
- , Anne-Fleur van Rootselaar
- , Julien Buratti
- , Theresa Kühnel
- , Christopher Schröder
- , Sebastian Giesselmann
- , Nikolai Tschernoster
- , Janine Altmueller
- , Anaide Lamiral
- , Boris Keren
- , Caroline Nava
- , Delphine Bouteiller
- , Sylvie Forlani
- , Ludmila Jornea
- , Regina Kubica
- , Tao Ye
- , Damien Plassard
- , Bernard Jost
- , Vincent Meyer
- , Jean-François Deleuze
- , Yannick Delpu
- , Mario D. M. Avarello
- , Lisanne S. Vijfhuizen
- , Gabrielle Rudolf
- , Edouard Hirsch
- , Thessa Kroes
- , Philipp S. Reif
- , Felix Rosenow
- , Christos Ganos
- , Marie Vidailhet
- , Lionel Thivard
- , Alexandre Mathieu
- , Thomas Bourgeron
- , Ingo Kurth
- , Haloom Rafehi
- , Laura Steenpass
- , Bernhard Horsthemke
- , Samuel F. Berkovic
- , Francesca Bisulli
- , Francesco Brancati
- , Laura Canafoglia
- , Giorgio Casari
- , Renzo Guerrini
- , Hiroyuki Ishiura
- , Laura Licchetta
- , Davide Mei
- , Tommaso Pippucci
- , Lynette Sadleir
- , Ingrid E. Scheffer
- , Pasquale Striano
- , Paolo Tinuper
- , Shoji Tsuji
- , Federico Zara
- , Eric LeGuern
- , Karl Martin Klein
- , Pierre Labauge
- , Mark F. Bennett
- , Melanie Bahlo
- , Jozef Gecz
- , Mark A. Corbett
- , Marina A. J. Tijssen
- , Arn M. J. M. van den Maagdenberg
- & Christel Depienne
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Research | | Open
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish
- Aleksandra Siekierska
- , Hannah Stamberger
- , Tine Deconinck
- , Stephanie N. Oprescu
- , Michèle Partoens
- , Yifan Zhang
- , Jo Sourbron
- , Elias Adriaenssens
- , Patrick Mullen
- , Patrick Wiencek
- , Katia Hardies
- , Jeong-Soo Lee
- , Hoi-Khoanh Giong
- , Felix Distelmaier
- , Orly Elpeleg
- , Katherine L. Helbig
- , Joseph Hersh
- , Sedat Isikay
- , Elizabeth Jordan
- , Ender Karaca
- , Angela Kecskes
- , James R. Lupski
- , Reka Kovacs-Nagy
- , Patrick May
- , Vinodh Narayanan
- , Manuela Pendziwiat
- , Keri Ramsey
- , Sampathkumar Rangasamy
- , Deepali N. Shinde
- , Ronen Spiegel
- , Vincent Timmerman
- , Sarah von Spiczak
- , Ingo Helbig
- , Chris Balak
- , Newell Belnap
- , Ana Claasen
- , Amanda Courtright
- , Matt de Both
- , Matthew J. Huentelman
- , Marcus Naymik
- , Ryan Richholt
- , Ashley L. Siniard
- , Szabolcs Szelinger
- , David W. Craig
- , Isabelle Schrauwen
- , Zaid Afawi
- , Rudi Balling
- , Stéphanie Baulac
- , Nina Barišić
- , Hande S. Caglayan
- , Dana Craiu
- , Rosa Guerrero-López
- , Renzo Guerrini
- , Helle Hjalgrim
- , Johanna Jähn
- , Karl Martin Klein
- , Eric Leguern
- , Johannes R. Lemke
- , Holger Lerche
- , Carla Marini
- , Rikke S. Møller
- , Hiltrud Muhle
- , Felix Rosenow
- , Jose Serratosa
- , Arvid Suls
- , Ulrich Stephani
- , Katalin Štěrbová
- , Pasquale Striano
- , Federico Zara
- , Sarah Weckhuysen
- , Christopher Francklyn
- , Anthony Antonellis
- , Peter de Witte
- & Peter De Jonghe
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Research | | Open
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 J. 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 Glauser
- , Simon Glynn
- , David B. Goldstein
- , Hongsheng Gui
- , Youling Guo
- , Kevin F. Haas
- , Hakon Hakonarson
- , Kerstin Hallmann
- , Sheryl Haut
- , Erin L. Heinzen
- , Ingo Helbig
- , Christian Hengsbach
- , Helle Hjalgrim
- , Michele Iacomino
- , Andrés Ingason
- , Jennifer Jamnadas-Khoda
- , Michael R. Johnson
- , Reetta Kälviäinen
- , Anne-Mari Kantanen
- , Dalia Kasperavičiūte
- , Dorothee Kasteleijn-Nolst Trenite
- , 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 Mayer
- , Mark McCormack
- , James L. Mills
- , Nasir Mirza
- , Martina Moerzinger
- , Rikke S. Møller
- , Anne M. Molloy
- , Hiltrud Muhle
- , Mark Newton
- , Ping-Wing Ng
- , Markus M. Nöthen
- , Peter Nürnberg
- , Terence J. O’Brien
- , Karen L. Oliver
- , Aarno Palotie
- , Faith Pangilinan
- , Sarah Peter
- , Slavé Petrovski
- , Annapurna Poduri
- , Michael Privitera
- , Rodney 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 Smith
- , David F. Smith
- , Michael C. Smith
- , Philip E. Smith
- , Anja C. M. Sonsma
- , Doug Speed
- , Michael R. Sperling
- , Bernhard J. Steinhoff
- , Ulrich Stephani
- , Remi Stevelink
- , Konstantin Strauch
- , Pasquale Striano
- , Hans Stroink
- , Rainer Surges
- , K. Meng Tan
- , Liu Lin Thio
- , G. Neil Thomas
- , Marian Todaro
- , Rossana Tozzi
- , Maria S. Vari
- , Eileen P. G. Vining
- , Frank Visscher
- , Sarah von Spiczak
- , Nicole M. Walley
- , Yvonne G. Weber
- , Zhi Wei
- , Judith Weisenberg
- , Christopher D. Whelan
- , Peter Widdess-Walsh
- , Markus Wolff
- , Stefan Wolking
- , Wanling Yang
- , Federico Zara
- & Fritz Zimprich
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Research | | Open
Cerebrospinal fluid microRNAs are potential biomarkers of temporal lobe epilepsy and status epilepticus
- Rana Raoof
- , Eva M. Jimenez-Mateos
- , Sebastian Bauer
- , Björn Tackenberg
- , Felix Rosenow
- , Johannes Lang
- , Müjgan Dogan Onugoren
- , Hajo Hamer
- , Tessa Huchtemann
- , Peter Körtvélyessy
- , Niamh M. C. Connolly
- , Shona Pfeiffer
- , Jochen H. M. Prehn
- , Michael A. Farrell
- , Donncha F. O’Brien
- , David C. Henshall
- & Catherine Mooney
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Research | | Open
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Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data
- Andrew S Allen
- , Samuel F Berkovic
- , Joshua Bridgers
- , Patrick Cossette
- , Dennis Dlugos
- , Michael P Epstein
- , Tracy Glauser
- , David B Goldstein
- , Erin L Heinzen
- , Yu Jiang
- , Michael R Johnson
- , Ruben Kuzniecky
- , Daniel H Lowenstein
- , Anthony G Marson
- , Heather C Mefford
- , Terence J O'Brien
- , Ruth Ottman
- , Steven Petrou
- , Slavé Petrovski
- , Annapurna Poduri
- , Zhong Ren
- , Ingrid E Scheffer
- , Elliott Sherr
- , Quanli Wang
- , Rudi Balling
- , Nina Barisic
- , Stéphanie Baulac
- , Hande Caglayan
- , Dana Craiu
- , Peter De Jonghe
- , Christel Depienne
- , Renzo Guerrini
- , Ingo Helbig
- , Helle Hjalgrim
- , Dorota Hoffman-Zacharska
- , Johanna Jähn
- , Karl Martin Klein
- , Bobby Koeleman
- , Vladimir Komarek
- , Roland Krause
- , Eric Leguern
- , Anna-Elina Lehesjoki
- , Johannes R Lemke
- , Holger Lerche
- , Tarja Linnankivi
- , Carla Marini
- , Patrick May
- , Rikke S Møller
- , Hiltrud Muhle
- , Deb Pal
- , Aarno Palotie
- , Felix Rosenow
- , Kaja Selmer
- , Jose M Serratosa
- , Sanjay Sisodiya
- , Ulrich Stephani
- , Katalin Sterbova
- , Pasquale Striano
- , Arvid Suls
- , Tiina Talvik
- , Sarah von Spiczak
- , Yvonne Weber
- , Sarah Weckhuysen
- , Federico Zara
- , Bassel Abou-Khalil
- , Brian K Alldredge
- , Dina Amrom
- , Eva Andermann
- , Frederick Andermann
- , Jocelyn F Bautista
- , Samuel F Berkovic
- , Judith Bluvstein
- , Gregory D Cascino
- , Damian Consalvo
- , Patricia Crumrine
- , Orrin Devinsky
- , Dennis Dlugos
- , Michael P Epstein
- , Miguel E Fiol
- , Nathan B Fountain
- , Jacqueline French
- , Daniel Friedman
- , Tracy Glauser
- , Kevin Haas
- , Sheryl R Haut
- , Jean Hayward
- , Sucheta Joshi
- , Andres Kanner
- , Heidi E Kirsch
- , Eric H Kossoff
- , Rachel Kuperman
- , Ruben Kuzniecky
- , Daniel H Lowenstein
- , Shannon M McGuire
- , Paul V Motika
- , Edward J Novotny
- , Ruth Ottman
- , Juliann M Paolicchi
- , Jack Parent
- , Kristen Park
- , Annapurna Poduri
- , Ingrid E Scheffer
- , Renée A Shellhaas
- , Elliott Sherr
- , Joseph Sirven
- , Michael C Smith
- , Joseph Sullivan
- , Liu Lin Thio
- , Anu Venkat
- , Eileen PG Vining
- , Gretchen K Von Allmen
- , Judith L Weisenberg
- , Peter Widdess-Walsh
- & Melodie R Winawer
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Research |
De novo mutations in HCN1 cause early infantile epileptic encephalopathy
- Caroline Nava
- , Carine Dalle
- , Agnès Rastetter
- , Pasquale Striano
- , Carolien G F de Kovel
- , Rima Nabbout
- , Claude Cancès
- , Dorothée Ville
- , Eva H Brilstra
- , Giuseppe Gobbi
- , Emmanuel Raffo
- , Delphine Bouteiller
- , Yannick Marie
- , Oriane Trouillard
- , Angela Robbiano
- , Boris Keren
- , Dahbia Agher
- , Emmanuel Roze
- , Suzanne Lesage
- , Aude Nicolas
- , Alexis Brice
- , Michel Baulac
- , Cornelia Vogt
- , Nady El Hajj
- , Eberhard Schneider
- , Arvid Suls
- , Sarah Weckhuysen
- , Padhraig Gormley
- , Anna-Elina Lehesjoki
- , Peter De Jonghe
- , Ingo Helbig
- , Stéphanie Baulac
- , Federico Zara
- , Bobby P C Koeleman
- , Rudi Balling
- , Nina Barisic
- , Stéphanie Baulac
- , Hande S Caglayan
- , Dana C Craiu
- , Peter De Jonghe
- , Christel Depienne
- , Padhraig Gormley
- , Renzo Guerrini
- , Ingo Helbig
- , Helle Hjalgrim
- , Dorota Hoffman-Zacharska
- , Johanna Jähn
- , Karl Martin Klein
- , Bobby P C Koeleman
- , Vladimir Komarek
- , Roland Krause
- , Eric LeGuern
- , Anna-Elina Lehesjoki
- , Johannes R Lemke
- , Holger Lerche
- , Carla Marini
- , Patrick May
- , Rikke S Møller
- , Hiltrud Muhle
- , Aarno Palotie
- , Deb Pal
- , Felix Rosenow
- , Kaja Selmer
- , José M Serratosa
- , Sanjay Sisodiya
- , Ulrich Stephani
- , Katalin Sterbova
- , Pasquale Striano
- , Arvid Suls
- , Tiina Talvik
- , Sarah von Spiczak
- , Yvonne Weber
- , Sarah Weckhuysen
- , Federico Zara
- , Thomas Haaf
- , Eric LeGuern
- & Christel Depienne
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Research |
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
- Steffen Syrbe
- , Ulrike B S Hedrich
- , Erik Riesch
- , Tania Djémié
- , Stephan Müller
- , Rikke S Møller
- , Bridget Maher
- , Laura Hernandez-Hernandez
- , Matthis Synofzik
- , Hande S Caglayan
- , Mutluay Arslan
- , José M Serratosa
- , Michael Nothnagel
- , Patrick May
- , Roland Krause
- , Heidrun Löffler
- , Katja Detert
- , Thomas Dorn
- , Heinrich Vogt
- , Günter Krämer
- , Ludger Schöls
- , Primus E Mullis
- , Tarja Linnankivi
- , Anna-Elina Lehesjoki
- , Katalin Sterbova
- , Dana C Craiu
- , Dorota Hoffman-Zacharska
- , Christian M Korff
- , Yvonne G Weber
- , Maja Steinlin
- , Sabina Gallati
- , Astrid Bertsche
- , Matthias K Bernhard
- , Andreas Merkenschlager
- , Wieland Kiess
- , Rudi Balling
- , Nina Barisic
- , Stéphanie Baulac
- , Hande S Caglayan
- , Dana C Craiu
- , Peter De Jonghe
- , Christel Depienne
- , Padhraig Gormley
- , Renzo Guerrini
- , Ingo Helbig
- , Helle Hjalgrim
- , Dorota Hoffman-Zacharska
- , Johanna Jähn
- , Karl Martin Klein
- , Bobby P C Koeleman
- , Vladimir Komarek
- , Roland Krause
- , Eric LeGuern
- , Anna-Elina Lehesjoki
- , Johannes R Lemke
- , Holger Lerche
- , Carla Marini
- , Patrick May
- , Rikke S Møller
- , Hiltrud Muhle
- , Aarno Palotie
- , Deb Pal
- , Felix Rosenow
- , Kaja Selmer
- , José M Serratosa
- , Sanjay M Sisodiya
- , Ulrich Stephani
- , Katalin Sterbova
- , Pasquale Striano
- , Arvid Suls
- , Tiina Talvik
- , Sarah von Spiczak
- , Yvonne G Weber
- , Sarah Weckhuysen
- , Federico Zara
- , Michael Gonzalez
- , Stephan Züchner
- , Aarno Palotie
- , Arvid Suls
- , Peter De Jonghe
- , Ingo Helbig
- , Saskia Biskup
- , Markus Wolff
- , Snezana Maljevic
- , Rebecca Schüle
- , Sanjay M Sisodiya
- , Sarah Weckhuysen
- , Holger Lerche
- & Johannes R Lemke
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