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CLCN2 variants in idiopathic generalized epilepsy.
Kleefuss-Lie A, Friedl W, Cichon S, Haug K, Warnstedt M, Alekov A, Sander T, Ramirez A, Poser B, Maljevic S, Hebeisen S, Kubisch C, Rebstock J, Horvath S, Hallmann K, Dullinger JS, Rau B, Haverkamp F, Beyenburg S, Schulz H, Janz D, Giese B, Müller-Newen G, Propping P, Elger CE, Fahlke C, Lerche H. Kleefuss-Lie A, et al. Among authors: maljevic s. Nat Genet. 2009 Sep;41(9):954-5. doi: 10.1038/ng0909-954. Nat Genet. 2009. PMID: 19710712 No abstract available.
Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies.
Haug K, Warnstedt M, Alekov AK, Sander T, Ramírez A, Poser B, Maljevic S, Hebeisen S, Kubisch C, Rebstock J, Horvath S, Hallmann K, Dullinger JS, Rau B, Haverkamp F, Beyenburg S, Schulz H, Janz D, Giese B, Müller-Newen G, Propping P, Elger CE, Fahlke C, Lerche H, Heils A. Haug K, et al. Among authors: maljevic s. Nat Genet. 2003 Apr;33(4):527-32. doi: 10.1038/ng1121. Epub 2003 Mar 3. Nat Genet. 2003. PMID: 12612585 Retracted.
Retraction: Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies.
Haug K, Warnstedt M, Alekov AK, Sander T, Ramírez A, Poser B, Maljevic S, Hebeisen S, Kubisch C, Rebstock J, Horvath S, Hallmann K, Dullinger JS, Rau B, Haverkamp F, Beyenburg S, Schulz H, Janz D, Giese B, Müller-Newen G, Propping P, Elger CE, Fahlke C, Lerche H. Haug K, et al. Among authors: maljevic s. Nat Genet. 2009 Sep;41(9):1043. doi: 10.1038/ng0909-1043. Nat Genet. 2009. PMID: 19710717 No abstract available.
Functional variants in HCN4 and CACNA1H may contribute to genetic generalized epilepsy.
Becker F, Reid CA, Hallmann K, Tae HS, Phillips AM, Teodorescu G, Weber YG, Kleefuss-Lie A, Elger C, Perez-Reyes E, Petrou S, Kunz WS, Lerche H, Maljevic S. Becker F, et al. Among authors: maljevic s. Epilepsia Open. 2017 Aug 5;2(3):334-342. doi: 10.1002/epi4.12068. eCollection 2017 Sep. Epilepsia Open. 2017. PMID: 29588962 Free PMC article.
Spectrum of GABAA receptor variants in epilepsy.
Maljevic S, Møller RS, Reid CA, Pérez-Palma E, Lal D, May P, Lerche H. Maljevic S, et al. Curr Opin Neurol. 2019 Apr;32(2):183-190. doi: 10.1097/WCO.0000000000000657. Curr Opin Neurol. 2019. PMID: 30664068 Review.
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
Syrbe S, Hedrich UBS, Riesch E, Djémié T, Müller S, Møller RS, Maher B, Hernandez-Hernandez L, Synofzik M, Caglayan HS, Arslan M, Serratosa JM, Nothnagel M, May P, Krause R, Löffler H, Detert K, Dorn T, Vogt H, Krämer G, Schöls L, Mullis PE, Linnankivi T, Lehesjoki AE, Sterbova K, Craiu DC, Hoffman-Zacharska D, Korff CM, Weber YG, Steinlin M, Gallati S, Bertsche A, Bernhard MK, Merkenschlager A, Kiess W; EuroEPINOMICS RES consortium; Gonzalez M, Züchner S, Palotie A, Suls A, De Jonghe P, Helbig I, Biskup S, Wolff M, Maljevic S, Schüle R, Sisodiya SM, Weckhuysen S, Lerche H, Lemke JR. Syrbe S, et al. Among authors: maljevic s. Nat Genet. 2015 Apr;47(4):393-399. doi: 10.1038/ng.3239. Epub 2015 Mar 9. Nat Genet. 2015. PMID: 25751627 Free PMC article.
59 results