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XB--996919
Papers associated with kcnc1 (and OMIM)
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Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations., Cameron JM, Maljevic S, Nair U, Aung YH, Cogné B, Bézieau S, Blair E, Isidor B, Zweier C, Reis A, Koenig MK, Maarup T, Sarco D, Afenjar A, Huq AHMM, Kukolich M, Billette de Villemeur T, Nava C, Héron B, Petrou S, Berkovic SF., Ann Clin Transl Neurol. July 1, 2019; 6 (7): 1263-1272.  |
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KCNC1-related disorders: new de novo variants expand the phenotypic spectrum., Park J, Koko M, Hedrich UBS, Hermann A, Cremer K, Haberlandt E, Grimmel M, Alhaddad B, Beck-Woedl S, Harrer M, Karall D, Kingelhoefer L, Tzschach A, Matthies LC, Strom TM, Ringelstein EB, Sturm M, Engels H, Wolff M, Lerche H, Haack TB., Ann Clin Transl Neurol. July 1, 2019; 6 (7): 1319-1326.  |
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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., Nat Genet. January 1, 2015; 47 (1): 39-46.  |
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Impaired ion channel function related to a common KCNQ1 mutation - implications for risk stratification in long QT syndrome 1., Aidery P, Kisselbach J, Schweizer PA, Becker R, Katus HA, Thomas D., Gene. December 10, 2012; 511 (1): 26-33.  |
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