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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. Nat Genet. 2003 Apr;33(4):527-32. doi: 10.1038/ng1121. Epub 2003 Mar 3. Nat Genet. 2003. PMID: 12612585 Retracted.
Metabolic consequences of a novel missense mutation of the mtDNA CO I gene.
Varlamov DA, Kudin AP, Vielhaber S, Schröder R, Sassen R, Becker A, Kunz D, Haug K, Rebstock J, Heils A, Elger CE, Kunz WS. Varlamov DA, et al. Among authors: haug k. Hum Mol Genet. 2002 Aug 1;11(16):1797-805. doi: 10.1093/hmg/11.16.1797. Hum Mol Genet. 2002. PMID: 12140182
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: haug k. Nat Genet. 2009 Sep;41(9):954-5. doi: 10.1038/ng0909-954. Nat Genet. 2009. PMID: 19710712 No abstract available.
230 results