Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study Article Swipe
Patrick May
,
Simon Girard
,
Merle Harrer
,
Dheeraj Reddy Bobbili
,
Julian Schubert
,
Stefan Wolking
,
Pamela Lachance‐Touchette
,
Caroline Meloche
,
Micheline Gravel
,
Cristina Elena Niturad
,
Julia Knaus
,
Carolien G. F. de Kovel
,
Mohamad Toliat
,
Anne Polvi
,
Michele Iacomino
,
Rosa Guerrero
,
Stéphanie Baulac
,
Carla Marini
,
Holger Thiele
,
Janine Altmüller
,
Kamel Jabbari
,
Ann‐Kathrin Ruppert
,
Wiktor Jurkowski
,
Dennis Lal
,
Raffaella Rusconi
,
Sandrine Cestèle
,
Benedetta Terragni
,
Ian D. Coombs
,
Christopher A. Reid
,
Pasquale Striano
,
Hande Çağlayan
,
Auli Sirén
,
Kate V. Everett
,
Rikke S. Møller
,
Helle Hjalgrim
,
Hiltrud Muhle
,
Ingo Helbig
,
Wolfram S. Kunz
,
Yvonne Weber
,
Sarah Weckhuysen
,
Peter De Jonghe
,
Sanjay M. Sisodiya
,
Rima Nabbout
,
Silvana Franceschetti
,
Antonietta Coppola
,
Maria Stella Vari
,
Dorothée Kasteleijn‐Nolst Trenité
,
Betül Baykan
,
Uğur Özbek
,
Nerses Bebek
,
Karl Martin Klein
,
Felix Rosenow
,
Dang Khoa Nguyen
,
François Dubeau
,
Lionel Carmant
,
Anne Lortie
,
Richard Desbiens
,
Jean-François Clément
,
Cécile Cieuta‐Walti
,
Graeme J. Sills
,
Pauls Auce
,
Ben Francis
,
Michael R. Johnson
,
Anthony G Marson
,
Bianca Berghuis
,
Josemir W. Sander
,
Andreja Avberšek
,
Mark McCormack
,
Gianpiero L. Cavalleri
,
Norman Delanty
,
Chantal Depondt
,
Martin Krenn
,
Fritz Zimprich
,
Sarah Peter
,
Marina Nikanorova
,
Robert Kraaij
,
Jeroen van Rooij
,
Rudi Balling
,
M. Arfan Ikram
,
André G. Uitterlinden
,
G. Avanzini
,
Stéphanie Schorge
,
Steven Petrou
,
Massimo Mantegazza
,
Thomas Sander
,
Éric Leguern
,
José M. Serratosa
,
Bobby P.C. Koeleman
,
Aarno Palotie
,
Anna‐Elina Lehesjoki
,
Michael Nothnagel
,
Peter Nürnberg
,
Snezana Maljevic
,
Federico Zara
,
Patrick Cossette
,
Roland Krause
,
Holger Lerche
,
Patrick May
,
Simon Girard
,
Merle Harrer
·
YOU?
·
· 2018
· Open Access
·
· DOI: https://doi.org/10.1016/s1474-4422(18)30215-1
YOU?
·
· 2018
· Open Access
·
· DOI: https://doi.org/10.1016/s1474-4422(18)30215-1
Related Topics
Concepts
GABAA receptor
Exome sequencing
Gene
Genetics
Exome
Coding (social sciences)
Biology
Receptor
Computational biology
Mutation
Mathematics
Statistics
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1016/s1474-4422(18)30215-1
- OA Status
- green
- Cited By
- 89
- References
- 45
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W2883808148
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W2883808148Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1016/s1474-4422(18)30215-1Digital Object Identifier
- Title
-
Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control studyWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2018Year of publication
- Publication date
-
2018-07-18Full publication date if available
- Authors
-
Patrick May, Simon Girard, Merle Harrer, Dheeraj Reddy Bobbili, Julian Schubert, Stefan Wolking, Pamela Lachance‐Touchette, Caroline Meloche, Micheline Gravel, Cristina Elena Niturad, Julia Knaus, Carolien G. F. de Kovel, Mohamad Toliat, Anne Polvi, Michele Iacomino, Rosa Guerrero, Stéphanie Baulac, Carla Marini, Holger Thiele, Janine Altmüller, Kamel Jabbari, Ann‐Kathrin Ruppert, Wiktor Jurkowski, Dennis Lal, Raffaella Rusconi, Sandrine Cestèle, Benedetta Terragni, Ian D. Coombs, Christopher A. Reid, Pasquale Striano, Hande Çağlayan, Auli Sirén, Kate V. Everett, Rikke S. Møller, Helle Hjalgrim, Hiltrud Muhle, Ingo Helbig, Wolfram S. Kunz, Yvonne Weber, Sarah Weckhuysen, Peter De Jonghe, Sanjay M. Sisodiya, Rima Nabbout, Silvana Franceschetti, Antonietta Coppola, Maria Stella Vari, Dorothée Kasteleijn‐Nolst Trenité, Betül Baykan, Uğur Özbek, Nerses Bebek, Karl Martin Klein, Felix Rosenow, Dang Khoa Nguyen, François Dubeau, Lionel Carmant, Anne Lortie, Richard Desbiens, Jean-François Clément, Cécile Cieuta‐Walti, Graeme J. Sills, Pauls Auce, Ben Francis, Michael R. Johnson, Anthony G Marson, Bianca Berghuis, Josemir W. Sander, Andreja Avberšek, Mark McCormack, Gianpiero L. Cavalleri, Norman Delanty, Chantal Depondt, Martin Krenn, Fritz Zimprich, Sarah Peter, Marina Nikanorova, Robert Kraaij, Jeroen van Rooij, Rudi Balling, M. Arfan Ikram, André G. Uitterlinden, G. Avanzini, Stéphanie Schorge, Steven Petrou, Massimo Mantegazza, Thomas Sander, Éric Leguern, José M. Serratosa, Bobby P.C. Koeleman, Aarno Palotie, Anna‐Elina Lehesjoki, Michael Nothnagel, Peter Nürnberg, Snezana Maljevic, Federico Zara, Patrick Cossette, Roland Krause, Holger Lerche, Patrick May, Simon Girard, Merle HarrerList of authors in order
- Landing page
-
https://doi.org/10.1016/s1474-4422(18)30215-1Publisher landing page
- Open access
-
YesWhether a free full text is available
- OA status
-
greenOpen access status per OpenAlex
- OA URL
-
https://findresearcher.sdu.dk:8443/ws/files/151948356/Rare_coding_variants_in_genes_encoding_GABAA_receptors_in_genetic_generalised_epilepsies.pdfDirect OA link when available
- Concepts
-
GABAA receptor, Exome sequencing, Gene, Genetics, Exome, Coding (social sciences), Biology, Receptor, Computational biology, Mutation, Mathematics, StatisticsTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
89Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 3, 2024: 11, 2023: 7, 2022: 17, 2021: 20Per-year citation counts (last 5 years)
- References (count)
-
45Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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