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Showing 1–24 of 24 results
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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 |
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features
- Marcello Scala
- , Geok Lin Chua
- , Cheen Fei Chin
- , Hessa S. Alsaif
- , Artem Borovikov
- , Saima Riazuddin
- , Sheikh Riazuddin
- , M. Chiara Manzini
- , Mariasavina Severino
- , Alvin Kuk
- , Hao Fan
- , Yalda Jamshidi
- , Mehran Beiraghi Toosi
- , Mohammad Doosti
- , Ehsan Ghayoor Karimiani
- , Vincenzo Salpietro
- , Elena Dadali
- , Galina Baydakova
- , Fedor Konovalov
- , Ekaterina Lozier
- , Emer O’Connor
- , Yasser Sabr
- , Abdullah Alfaifi
- , Farah Ashrafzadeh
- , Pasquale Striano
- , Federico Zara
- , Fowzan S. Alkuraya
- , Henry Houlden
- , Reza Maroofian
- & David L. Silver
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Research |
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News and Views |
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Research |
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News and Views |
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Research |
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract
- Federico Zara
- , Roberta Biancheri
- , Claudio Bruno
- , Laura Bordo
- , Stefania Assereto
- , Elisabetta Gazzerro
- , Federica Sotgia
- , Xiao Bo Wang
- , Stefania Gianotti
- , Silvia Stringara
- , Marina Pedemonte
- , Graziella Uziel
- , Andrea Rossi
- , Angelo Schenone
- , Paolo Tortori-Donati
- , Marjo S van der Knaap
- , Michael P Lisanti
- & Carlo Minetti
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News and Views |
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News and Views |
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Research | | Open
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
- Mark A. Corbett
- , Thessa Kroes
- , Liana Veneziano
- , Mark F. Bennett
- , Rahel Florian
- , Amy L. Schneider
- , Antonietta Coppola
- , Laura Licchetta
- , Silvana Franceschetti
- , Antonio Suppa
- , Aaron Wenger
- , Davide Mei
- , Manuela Pendziwiat
- , Sabine Kaya
- , Massimo Delledonne
- , Rachel Straussberg
- , Luciano Xumerle
- , Brigid Regan
- , Douglas Crompton
- , Anne-Fleur van Rootselaar
- , Anthony Correll
- , Rachael Catford
- , Francesca Bisulli
- , Shreyasee Chakraborty
- , Sara Baldassari
- , Paolo Tinuper
- , Kirston Barton
- , Shaun Carswell
- , Martin Smith
- , Alfredo Berardelli
- , Renee Carroll
- , Alison Gardner
- , Kathryn L. Friend
- , Ilan Blatt
- , Michele Iacomino
- , Carlo Di Bonaventura
- , Salvatore Striano
- , Julien Buratti
- , Boris Keren
- , Caroline Nava
- , Sylvie Forlani
- , Gabrielle Rudolf
- , Edouard Hirsch
- , Eric Leguern
- , Pierre Labauge
- , Simona Balestrini
- , Josemir W. Sander
- , Zaid Afawi
- , Ingo Helbig
- , Hiroyuki Ishiura
- , Shoji Tsuji
- , Sanjay M. Sisodiya
- , Giorgio Casari
- , Lynette G. Sadleir
- , Riaan van Coller
- , Marina A. J. Tijssen
- , Karl Martin Klein
- , Arn M. J. M. van den Maagdenberg
- , Federico Zara
- , Renzo Guerrini
- , Samuel F. Berkovic
- , Tommaso Pippucci
- , Laura Canafoglia
- , Melanie Bahlo
- , Pasquale Striano
- , Ingrid E. Scheffer
- , Francesco Brancati
- , Christel Depienne
- & Jozef Gecz
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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
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
- Vincenzo Salpietro
- , Christine L. Dixon
- , Hui Guo
- , Oscar D. Bello
- , Jana Vandrovcova
- , Stephanie Efthymiou
- , Reza Maroofian
- , Gali Heimer
- , Lydie Burglen
- , Stephanie Valence
- , Erin Torti
- , Moritz Hacke
- , Julia Rankin
- , Huma Tariq
- , Estelle Colin
- , Vincent Procaccio
- , Pasquale Striano
- , Kshitij Mankad
- , Andreas Lieb
- , Sharon Chen
- , Laura Pisani
- , Conceicao Bettencourt
- , Roope Männikkö
- , Andreea Manole
- , Alfredo Brusco
- , Enrico Grosso
- , Giovanni Battista Ferrero
- , Judith Armstrong-Moron
- , Sophie Gueden
- , Omer Bar-Yosef
- , Michal Tzadok
- , Kristin G. Monaghan
- , Teresa Santiago-Sim
- , Richard E. Person
- , Megan T. Cho
- , Rebecca Willaert
- , Yongjin Yoo
- , Jong-Hee Chae
- , Yingting Quan
- , Huidan Wu
- , Tianyun Wang
- , Raphael A. Bernier
- , Kun Xia
- , Alyssa Blesson
- , Mahim Jain
- , Mohammad M. Motazacker
- , Bregje Jaeger
- , Amy L. Schneider
- , Katja Boysen
- , Alison M. Muir
- , Candace T. Myers
- , Ralitza H. Gavrilova
- , Lauren Gunderson
- , Laura Schultz-Rogers
- , Eric W. Klee
- , David Dyment
- , Matthew Osmond
- , Mara Parellada
- , Cloe Llorente
- , Javier Gonzalez-Peñas
- , Angel Carracedo
- , Arie Van Haeringen
- , Claudia Ruivenkamp
- , Caroline Nava
- , Delphine Heron
- , Rosaria Nardello
- , Michele Iacomino
- , Carlo Minetti
- , Aldo Skabar
- , Antonella Fabretto
- , Michael G. Hanna
- , Enrico Bugiardini
- , Isabel Hostettler
- , Benjamin O’Callaghan
- , Alaa Khan
- , Andrea Cortese
- , Emer O’Connor
- , Wai Y. Yau
- , Thomas Bourinaris
- , Rauan Kaiyrzhanov
- , Viorica Chelban
- , Monika Madej
- , Maria C. Diana
- , Maria S. Vari
- , Marina Pedemonte
- , Claudio Bruno
- , Ganna Balagura
- , Marcello Scala
- , Chiara Fiorillo
- , Lino Nobili
- , Nancy T. Malintan
- , Maria N. Zanetti
- , Shyam S. Krishnakumar
- , Gabriele Lignani
- , James E. C. Jepson
- , Paolo Broda
- , Simona Baldassari
- , Pia Rossi
- , Floriana Fruscione
- , Francesca Madia
- , Monica Traverso
- , Patrizia De-Marco
- , Belen Pérez-Dueñas
- , Francina Munell
- , Yamna Kriouile
- , Mohamed El-Khorassani
- , Blagovesta Karashova
- , Daniela Avdjieva
- , Hadil Kathom
- , Radka Tincheva
- , Lionel Van-Maldergem
- , Wolfgang Nachbauer
- , Sylvia Boesch
- , Antonella Gagliano
- , Elisabetta Amadori
- , Jatinder S. Goraya
- , Tipu Sultan
- , Salman Kirmani
- , Shahnaz Ibrahim
- , Farida Jan
- , Jun Mine
- , Selina Banu
- , Pierangelo Veggiotti
- , Gian V. Zuccotti
- , Michel D. Ferrari
- , Arn M. J. Van Den Maagdenberg
- , Alberto Verrotti
- , Gian L. Marseglia
- , Salvatore Savasta
- , Miguel A. Soler
- , Carmela Scuderi
- , Eugenia Borgione
- , Roberto Chimenz
- , Eloisa Gitto
- , Valeria Dipasquale
- , Alessia Sallemi
- , Monica Fusco
- , Caterina Cuppari
- , Maria C. Cutrupi
- , Martino Ruggieri
- , Armando Cama
- , Valeria Capra
- , Niccolò E. Mencacci
- , Richard Boles
- , Neerja Gupta
- , Madhulika Kabra
- , Savvas Papacostas
- , Eleni Zamba-Papanicolaou
- , Efthymios Dardiotis
- , Shazia Maqbool
- , Nuzhat Rana
- , Osama Atawneh
- , Shen Y. Lim
- , Farooq Shaikh
- , George Koutsis
- , Marianthi Breza
- , Domenico A. Coviello
- , Yves A. Dauvilliers
- , Issam AlKhawaja
- , Mariam AlKhawaja
- , Fuad Al-Mutairi
- , Tanya Stojkovic
- , Veronica Ferrucci
- , Massimo Zollo
- , Fowzan S. Alkuraya
- , Maria Kinali
- , Hamed Sherifa
- , Hanene Benrhouma
- , Ilhem B. Y. Turki
- , Meriem Tazir
- , Makram Obeid
- , Sophia Bakhtadze
- , Nebal W. Saadi
- , Maha S. Zaki
- , Chahnez C. Triki
- , Fabio Benfenati
- , Stefano Gustincich
- , Majdi Kara
- , Vincenzo Belcastro
- , Nicola Specchio
- , Giuseppe Capovilla
- , Ehsan G. Karimiani
- , Ahmed M. Salih
- , Njideka U. Okubadejo
- , Oluwadamilola O. Ojo
- , Olajumoke O. Oshinaike
- , Olapeju Oguntunde
- , Kolawole Wahab
- , Abiodun H. Bello
- , Sanni Abubakar
- , Yahaya Obiabo
- , Ernest Nwazor
- , Oluchi Ekenze
- , Uduak Williams
- , Alagoma Iyagba
- , Lolade Taiwo
- , Morenikeji Komolafe
- , Konstantin Senkevich
- , Chingiz Shashkin
- , Nazira Zharkynbekova
- , Kairgali Koneyev
- , Ganieva Manizha
- , Maksud Isrofilov
- , Ulviyya Guliyeva
- , Kamran Salayev
- , Samson Khachatryan
- , Salvatore Rossi
- , Gabriella Silvestri
- , Nourelhoda Haridy
- , Luca A. Ramenghi
- , Georgia Xiromerisiou
- , Emanuele David
- , Mhammed Aguennouz
- , Liana Fidani
- , Cleanthe Spanaki
- , Arianna Tucci
- , Miquel Raspall-Chaure
- , Michael Chez
- , Anne Tsai
- , Emily Fassi
- , Marwan Shinawi
- , John N. Constantino
- , Rita De Zorzi
- , Sara Fortuna
- , Fernando Kok
- , Boris Keren
- , Dominique Bonneau
- , Murim Choi
- , Bruria Benzeev
- , Federico Zara
- , Heather C. Mefford
- , Ingrid E. Scheffer
- , Jill Clayton-Smith
- , Alfons Macaya
- , James E. Rothman
- , Evan E. Eichler
- , Dimitri M. Kullmann
- & Henry Houlden
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Research |
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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 |
De novo variants in neurodevelopmental disorders with epilepsy
- Henrike O. Heyne
- , Tarjinder Singh
- , Hannah Stamberger
- , Rami Abou Jamra
- , Hande Caglayan
- , Dana Craiu
- , Peter De Jonghe
- , Renzo Guerrini
- , Katherine L. Helbig
- , Bobby P. C. Koeleman
- , Jack A. Kosmicki
- , Tarja Linnankivi
- , Patrick May
- , Hiltrud Muhle
- , Rikke S. Møller
- , Bernd A. Neubauer
- , Aarno Palotie
- , Manuela Pendziwiat
- , Pasquale Striano
- , Sha Tang
- , Sitao Wu
- , Zaid Afawi
- , Carolien de Kovel
- , Petia Dimova
- , Tania Djémié
- , Milda Endziniene
- , Dorota Hoffman-Zacharska
- , Johanna Jähn
- , Christian Korff
- , Anna-Elina Lehesjoki
- , Carla Marini
- , Stefanie H. Müller
- , Deb Pal
- , Niklas Schwarz
- , Kaja Selmer
- , Jose Serratosa
- , Ulrich Stephani
- , Katalin Štěrbová
- , Arvid Suls
- , Steffen Syrbe
- , Inga Talvik
- , Shan Tang
- , Sarah von Spiczak
- , Federico Zara
- , Annapurna Poduri
- , Yvonne G. Weber
- , Sarah Weckhuysen
- , Sanjay M. Sisodiya
- , Mark J. Daly
- , Ingo Helbig
- , Dennis Lal
- & Johannes R. Lemke
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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 |
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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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