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Page 1
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
Muona M, Berkovic SF, Dibbens LM, Oliver KL, Maljevic S, Bayly MA, Joensuu T, Canafoglia L, Franceschetti S, Michelucci R, Markkinen S, Heron SE, Hildebrand MS, Andermann E, Andermann F, Gambardella A, Tinuper P, Licchetta L, Scheffer IE, Criscuolo C, Filla A, Ferlazzo E, Ahmad J, Ahmad A, Baykan B, Said E, Topcu M, Riguzzi P, King MD, Ozkara C, Andrade DM, Engelsen BA, Crespel A, Lindenau M, Lohmann E, Saletti V, Massano J, Privitera M, Espay AJ, Kauffmann B, Duchowny M, Møller RS, Straussberg R, Afawi Z, Ben-Zeev B, Samocha KE, Daly MJ, Petrou S, Lerche H, Palotie A, Lehesjoki AE. Muona M, et al. Among authors: lindenau m. Nat Genet. 2015 Jan;47(1):39-46. doi: 10.1038/ng.3144. Epub 2014 Nov 17. Nat Genet. 2015. PMID: 25401298 Free PMC article.
Unusual variability of PRRT2 linked phenotypes within a family.
Brueckner F, Kohl B, Puest B, Gassner S, Osseforth J, Lindenau M, Stodieck S, Biskup S, Lohmann E. Brueckner F, et al. Among authors: lindenau m. Eur J Paediatr Neurol. 2014 Jul;18(4):540-2. doi: 10.1016/j.ejpn.2014.03.012. Epub 2014 Apr 8. Eur J Paediatr Neurol. 2014. PMID: 24755245
Evidence of a pathogenic role for CD8(+) T cells in anti-GABAB receptor limbic encephalitis.
Golombeck KS, Bönte K, Mönig C, van Loo KM, Hartwig M, Schwindt W, Widman G, Lindenau M, Becker AJ, Glatzel M, Elger CE, Wiendl H, Meuth SG, Lohmann H, Gross CC, Melzer N. Golombeck KS, et al. Among authors: lindenau m. Neurol Neuroimmunol Neuroinflamm. 2016 Apr 29;3(3):e232. doi: 10.1212/NXI.0000000000000232. eCollection 2016 Jun. Neurol Neuroimmunol Neuroinflamm. 2016. PMID: 27213174 Free PMC article.
Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties.
Oliver KL, Franceschetti S, Milligan CJ, Muona M, Mandelstam SA, Canafoglia L, Boguszewska-Chachulska AM, Korczyn AD, Bisulli F, Di Bonaventura C, Ragona F, Michelucci R, Ben-Zeev B, Straussberg R, Panzica F, Massano J, Friedman D, Crespel A, Engelsen BA, Andermann F, Andermann E, Spodar K, Lasek-Bal A, Riguzzi P, Pasini E, Tinuper P, Licchetta L, Gardella E, Lindenau M, Wulf A, Møller RS, Benninger F, Afawi Z, Rubboli G, Reid CA, Maljevic S, Lerche H, Lehesjoki AE, Petrou S, Berkovic SF. Oliver KL, et al. Among authors: lindenau m. Ann Neurol. 2017 May;81(5):677-689. doi: 10.1002/ana.24929. Ann Neurol. 2017. PMID: 28380698
14 results