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Rare coding variants in genes encoding GABA(A) receptors in genetic generalised epilepsies: an exome-based case-control study

dc.contributor.authorRusconi, Raffaella
dc.contributor.authorDelanty, Norman
dc.contributor.authorDepondt, Chantal
dc.contributor.authorKrenn, Martin
dc.contributor.authorZimprich, Fritz
dc.contributor.authorPeter, Sarah
dc.contributor.authorNikanorova, Marina
dc.contributor.authorKraaij, Robert
dc.contributor.authorvan Rooij, Jeroen
dc.contributor.authorBalling, Rudi
dc.contributor.authorIkram, M. Arfan
dc.contributor.authorUitterlinden, Andre G.
dc.contributor.authorAvanzini, Giuliano
dc.contributor.authorSchorge, Stephanie
dc.contributor.authorPetrou, Steven
dc.contributor.authorMantegazza, Massimo
dc.contributor.authorSander, Thomas
dc.contributor.authorLeGuern, Eric
dc.contributor.authorSerratosa, Jose M.
dc.contributor.authorKoeleman, Bobby P. C.
dc.contributor.authorPalotie, Aarno
dc.contributor.authorNuernberg, Peter
dc.contributor.authorMaljevic, Snezana
dc.contributor.authorZara, Federico
dc.contributor.authorCossette, Patrick
dc.contributor.authorKrause, Roland
dc.contributor.authorLerche, Holger
dc.contributor.authorWeber, Yvonne G.
dc.contributor.authorBaykan, Betul
dc.contributor.authorBebek, Nerses
dc.contributor.authorMay, Patrick
dc.contributor.authorGirard, Simon
dc.contributor.authorHarrer, Merle
dc.contributor.authorBobbili, Dheeraj R.
dc.contributor.authorSchubert, Julian
dc.contributor.authorWolking, Stefan
dc.contributor.authorBecker, Felicitas
dc.contributor.authorLachance-Touchette, Pamela
dc.contributor.authorMeloche, Caroline
dc.contributor.authorGravel, Micheline
dc.contributor.authorNiturad, Cristina E.
dc.contributor.authorKnaus, Julia
dc.contributor.authorDe Kovel, Carolien
dc.contributor.authorToliat, Mohamad
dc.contributor.authorPolvi, Anne
dc.contributor.authorIacomino, Michele
dc.contributor.authorGuerrero-Lopez, Rosa
dc.contributor.authorBaulac, Stephanie
dc.contributor.authorMarini, Carla
dc.contributor.authorThiele, Holger
dc.contributor.authorAltmueller, Janine
dc.contributor.authorJabbari, Kamel
dc.contributor.authorRuppert, Ann-Kathrin
dc.contributor.authorJurkowski, Wiktor
dc.contributor.authorLal, Dennis
dc.contributor.authorCestele, Sandrine
dc.contributor.authorTerragni, Benedetta
dc.contributor.authorCoombs, Ian D.
dc.contributor.authorReid, Christopher A.
dc.contributor.authorStriano, Pasquale
dc.contributor.authorCaglayan, Hande
dc.contributor.authorSiren, Auli
dc.contributor.authorEverett, Kate
dc.contributor.authorMoller, Rikke S.
dc.contributor.authorHjalgrim, Helle
dc.contributor.authorMuhle, Hiltrud
dc.contributor.authorHelbig, Ingo
dc.contributor.authorKunz, Wolfram S.
dc.contributor.authorWeckhuysen, Sarah
dc.contributor.authorDe Jonghe, Peter
dc.contributor.authorSisodiya, Sanjay M.
dc.contributor.authorNabbout, Rima
dc.contributor.authorFranceschetti, Silvana
dc.contributor.authorCoppola, Antonietta
dc.contributor.authorVari, Maria S.
dc.contributor.authorTrenite, Dorothee Kasteleijn-Nolst
dc.contributor.authorLehesjoki, Anna-Elina
dc.contributor.authorNothnagel, Michael
dc.contributor.authorÖZBEK, Uğur
dc.contributor.authorKlein, Karl M.
dc.contributor.authorRosenow, Felix
dc.contributor.authorNguyen, Dang K.
dc.contributor.authorDubeau, Francois
dc.contributor.authorCarmant, Lionel
dc.contributor.authorLortie, Anne
dc.contributor.authorDesbiens, Richard
dc.contributor.authorClement, Jean-Francois
dc.contributor.authorCieuta-Walti, Cecile
dc.contributor.authorSills, Graeme J.
dc.contributor.authorAuce, Pauls
dc.contributor.authorFrancis, Ben
dc.contributor.authorJohnson, Michael R.
dc.contributor.authorMarson, Anthony G.
dc.contributor.authorBerghuis, Bianca
dc.contributor.authorSander, Josemir W.
dc.contributor.authorAvbersek, Andreja
dc.contributor.authorMcCormack, Mark
dc.contributor.authorCavalleri, Gianpiero L.
dc.date.accessioned2021-03-05T17:00:02Z
dc.date.available2021-03-05T17:00:02Z
dc.date.issued2018
dc.identifier.citationMay P., Girard S., Harrer M., Bobbili D. R. , Schubert J., Wolking S., Becker F., Lachance-Touchette P., Meloche C., Gravel M., et al., "Rare coding variants in genes encoding GABA(A) receptors in genetic generalised epilepsies: an exome-based case-control study", LANCET NEUROLOGY, cilt.17, ss.699-708, 2018
dc.identifier.issn1474-4422
dc.identifier.othervv_1032021
dc.identifier.otherav_c35d926b-dc79-4166-b02d-5d600dc28da7
dc.identifier.urihttp://hdl.handle.net/20.500.12627/129642
dc.identifier.urihttps://doi.org/10.1016/s1474-4422(18)30215-1
dc.description.abstractBackground Genetic generalised epilepsy is the most common type of inherited epilepsy. Despite a high concordance rate of 80% in monozygotic twins, the genetic background is still poorly understood. We aimed to investigate the burden of rare genetic variants in genetic generalised epilepsy.
dc.language.isoeng
dc.subjectTıp
dc.subjectDahili Tıp Bilimleri
dc.subjectNöroloji
dc.subjectSağlık Bilimleri
dc.subjectKlinik Tıp (MED)
dc.subjectKlinik Tıp
dc.subjectKLİNİK NEUROLOJİ
dc.titleRare coding variants in genes encoding GABA(A) receptors in genetic generalised epilepsies: an exome-based case-control study
dc.typeMakale
dc.relation.journalLANCET NEUROLOGY
dc.contributor.departmentUniversity of Luxembourg , ,
dc.identifier.volume17
dc.identifier.issue8
dc.identifier.startpage699
dc.identifier.endpage708
dc.contributor.firstauthorID255477


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