Genetische Untersuchungen bei Epilepsien – vom Labor in die Praxis
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Published:2015-12-17
Issue:2
Volume:29
Page:51-52
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ISSN:1617-6782
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Container-title:Zeitschrift für Epileptologie
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language:de
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Short-container-title:Z. Epileptol.
Author:
Weber Yvonne,Lerche Holger
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),Pediatrics, Perinatology and Child Health
Reference7 articles.
1. Weber YG, Lerche H (2013) Genetics of idiopathic epilepsies. Nervenarzt 84:151–156 2. Reinthaler EM, Dejanovic B, Lal D, Semtner M, Merkler Y, Reinhold A, Pittrich DA, Hotzy C, Feucht M, Steinböck H, Gruber-Sedlmayr U, Ronen GM, Neophytou B, Geldner J, Haberlandt E, Muhle H, Ikram MA, van Duijn CM, Uitterlinden AG, Hofman A, Altmüller J, Kawalia A, Toliat MR, EuroEPINOMICS Consortium, Nürnberg P, Lerche H, Nothnagel M, Thiele H, Sander T, Meier JC, Schwarz G, Neubauer BA, Zimprich F (2015) Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes. Ann Neurol 77:972–986 3. Weber YG, Storch A, Wuttke TV, Brockmann K, Kempfle J, Maljevic S, Margari L, Kamm C, Schneider SA, Huber SM, Pekrun A, Roebling R, Seebohm G, Koka S, Lang C, Kraft E, Blazevic D, Salvo-Vargas A, Fauler M, Mottaghy FM, Münchau A, Edwards MJ, Presicci A, Margari F, Gasser T, Lang F, Bhatia KP, Lehmann-Horn F, Lerche H (2008) GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. J Clin Invest 118:2157–2168 4. Plecko B, Stockler S (2009) Vitamin B6 dependent seizures. Can J Neurol Sci 36(Suppl 2):73–77 5. Hallmann K, Zsurka G, Moskau-Hartmann S, Kirschner J, Korinthenberg R, Ruppert AK, Ozdemir O, Weber YG, Becker F, Lerche H, Elger CE, Thiele H, Nürnberg P, Sander T, Kunz WS (2014) A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy. Neurology 24:2218–2227
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2 articles.
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