Works matching AU Maljevic, Snezana

Results: 34
    1

    Characterization of the GABRB2-Associated Neurodevelopmental Disorders.

    Published in:
    2021
    By:
    • Achkar, Christelle M.;
    • Harrer, Merle;
    • Smith, Lacey;
    • Kelly, McKenna;
    • Iqbal, Sumaiya;
    • Maljevic, Snezana;
    • Niturad, Cristina E.;
    • Vissers, Lisenka E. L. M.;
    • Poduri, Annapurna;
    • Yang, Edward;
    • Lal, Dennis;
    • Lerche, Holger;
    • Møller, Rikke S.;
    • Olson, Heather E.;
    • El Achkar, Christelle M;
    • GABRB2 Working Group
    Publication type:
    journal article
    2
    3

    Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.

    Published in:
    Annals of Neurology, 2014, v. 75, n. 3, p. 382, doi. 10.1002/ana.24080
    By:
    • Orhan, Gökce;
    • Bock, Merle;
    • Schepers, Dorien;
    • Ilina, Elena I.;
    • Reichel, Stephanie Nadine;
    • Löffler, Heidi;
    • Jezutkovic, Nicole;
    • Weckhuysen, Sarah;
    • Mandelstam, Simone;
    • Suls, Arvid;
    • Danker, Timm;
    • Guenther, Elke;
    • Scheffer, Ingrid E.;
    • Jonghe, Peter;
    • Lerche, Holger;
    • Maljevic, Snezana
    Publication type:
    Article
    4
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    8

    Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies.

    Published in:
    Nature Genetics, 2003, v. 33, n. 4, p. 527, doi. 10.1038/ng1121
    By:
    • Haug, Karsten;
    • Warnstedt, Maike;
    • Alekov, Alexi K.;
    • Sander, Thomas;
    • Ramirez, Alfredo;
    • Poser, Barbara;
    • Maljevic, Snezana;
    • Hebeisen, Simon;
    • Kubisch, Christian;
    • Rebstock, Johannes;
    • Horvath, Steve;
    • Hallmann, Kerstin;
    • Dullinger, Joern S.;
    • Rau, Birgit;
    • Haverkamp, Fritz;
    • Beyenburg, Stefan;
    • Schulz, Herbert;
    • Janz, Dieter;
    • Giese, Bernd
    Publication type:
    Article
    9
    10
    11

    Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy.

    Published in:
    Brain: A Journal of Neurology, 2010, v. 133, n. 5, p. 1403, doi. 10.1093/brain/awq057
    By:
    • Yunxiang Liao;
    • Deprez, Liesbet;
    • Maljevic, Snezana;
    • Pitsch, Julika;
    • Claes, Lieve;
    • Hristova, Dimitrina;
    • Jordanova, Albena;
    • Ala-Mello, Sirpa;
    • Bellan-Koch, Astrid;
    • Blazevic, Dragica;
    • Schubert, Simone;
    • Thomas, Evan A.;
    • Petrou, Steven;
    • Becker, Albert J.;
    • De Jonghe, Peter;
    • Lerche, Holger
    Publication type:
    Article
    12

    Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

    Published in:
    Brain: A Journal of Neurology, 2008, v. 131, n. 7, p. 1831, doi. 10.1093/brain/awn113
    By:
    • Arvid Suls;
    • Peter Dedeken;
    • Karolien Goffin;
    • Hilde Van Esch;
    • Patrick Dupont;
    • David Cassiman;
    • Judith Kempfle;
    • Thomas V. Wuttke;
    • Yvonne Weber;
    • Holger Lerche;
    • Zaid Afawi;
    • Wim Vandenberghe;
    • Amos D. Korczyn;
    • Samuel F. Berkovic;
    • Dana Ekstein;
    • Sara Kivity;
    • Philippe Ryvlin;
    • Lieve R. F. Claes;
    • Liesbet Deprez;
    • Snezana Maljevic
    Publication type:
    Article
    13
    14

    Gain‐of‐function <italic>HCN2</italic> variants in genetic epilepsy.

    Published in:
    Human Mutation, 2018, v. 39, n. 2, p. 202, doi. 10.1002/humu.23357
    By:
    • Li, Melody;
    • Maljevic, Snezana;
    • Phillips, A. Marie;
    • Petrovski, Slave;
    • Hildebrand, Michael S.;
    • Burgess, Rosemary;
    • Mount, Therese;
    • Zara, Federico;
    • Striano, Pasquale;
    • Schubert, Julian;
    • Thiele, Holger;
    • Nürnberg, Peter;
    • Wong, Michael;
    • Weisenberg, Judith L.;
    • Thio, Liu Lin;
    • Lerche, Holger;
    • Scheffer, Ingrid E.;
    • Berkovic, Samuel F.;
    • Petrou, Steven;
    • Reid, Christopher A.
    Publication type:
    Article
    15
    16

    Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy.

    Published in:
    Human Mutation, 2009, v. 30, n. 3, p. 397, doi. 10.1002/humu.20876
    By:
    • Saint-Martin, Cécile;
    • Gauvain, Grégory;
    • Teodorescu, Georgeta;
    • Gourfinkel-An, Isabelle;
    • Fedirko, Estelle;
    • Weber, Yvonne G.;
    • Maljevic, Snezana;
    • Ernst, Jan-Peter;
    • Garcia-Olivares, Jennie;
    • Fahlke, Christoph;
    • Nabbout, Rima;
    • LeGuern, Eric;
    • Lerche, Holger;
    • Poncer, Jean Christophe;
    • Depienne, Christel
    Publication type:
    Article
    17
    18

    K<sub>V</sub>7 channelopathies.

    Published in:
    Pflügers Archiv: European Journal of Physiology, 2010, v. 460, n. 2, p. 277, doi. 10.1007/s00424-010-0831-3
    By:
    • Maljevic, Snezana;
    • Wuttke, Thomas V.;
    • Seebohm, Guiscard;
    • Lerche, Holger
    Publication type:
    Article
    19
    20

    Distinctive In Vitro Phenotypes in iPSC-Derived Neurons From Patients With Gain- and Loss-of-Function SCN2A Developmental and Epileptic Encephalopathy.

    Published in:
    Journal of Neuroscience, 2024, v. 44, n. 8, p. 1, doi. 10.1523/JNEUROSCI.0692-23.2023
    By:
    • Miaomiao Mao;
    • Mattei, Cristiana;
    • Rollo, Ben;
    • Byars, Sean;
    • Cuddy, Claire;
    • Berecki, Geza;
    • Heighway, Jacqueline;
    • Pachernegg, Svenja;
    • Menheniott, Trevelyan;
    • Apted, Danielle;
    • Linghan Jia;
    • Dalby, Kelley;
    • Nemiroff, Alex;
    • Mullen, Saul;
    • Reid, Christopher A.;
    • Maljevic, Snezana;
    • Petrou, Steven
    Publication type:
    Article
    21

    Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations.

    Published in:
    Annals of Clinical & Translational Neurology, 2019, v. 6, n. 7, p. 1263, doi. 10.1002/acn3.50822
    By:
    • Cameron, Jillian M.;
    • Maljevic, Snezana;
    • Nair, Umesh;
    • Aung, Ye Htet;
    • Cogné, Benjamin;
    • Bézieau, Stéphane;
    • Blair, Edward;
    • Isidor, Bertrand;
    • Zweier, Christiane;
    • Reis, André;
    • Koenig, Mary Kay;
    • Maarup, Timothy;
    • Sarco, Dean;
    • Afenjar, Alexandra;
    • Huq, A. H. M. Mahbubul;
    • Kukolich, Mary;
    • Billette de Villemeur, Thierry;
    • Nava, Caroline;
    • Héron, Bénédicte;
    • Petrou, Steven
    Publication type:
    Article
    22
    23

    Rapid Report.

    Published in:
    Journal of Physiology, 2003, v. 548, n. 2, p. 353, doi. 10.1111/j.1469-7793.2003.00353.x
    By:
    • Maljevic, Snezana;
    • Lerche, Christian;
    • Seebohm, Guiscard;
    • Alekov, Alexi K.;
    • Busch, Andreas E.;
    • Lerche, Holger
    Publication type:
    Article
    24
    25

    Functional variants in HCN4 and CACNA1H may contribute to genetic generalized epilepsy.

    Published in:
    Epilepsia Open, 2017, v. 2, n. 3, p. 334, doi. 10.1002/epi4.12068
    By:
    • Becker, Felicitas;
    • Reid, Christopher A.;
    • Hallmann, Kerstin;
    • Tae, Han‐Shen;
    • Phillips, A. Marie;
    • Teodorescu, Georgeta;
    • Weber, Yvonne G.;
    • Kleefuss‐Lie, Ailing;
    • Elger, Christian;
    • Perez‐Reyes, Edward;
    • Petrou, Steven;
    • Kunz, Wolfram S.;
    • Lerche, Holger;
    • Maljevic, Snezana
    Publication type:
    Article
    26
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    28

    Mechanismen genetischer Epilepsien.

    Published in:
    Neuroforum, 2013, v. 19, n. 2, p. 38, doi. 10.1515/nf-2013-0202
    By:
    • Hedrich, Ulrike;
    • Maljevic, Snezana;
    • Lerche, Holger
    Publication type:
    Article
    29
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    Retraction: Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies.

    Published in:
    2009
    By:
    • Haug, Karsten;
    • Warnstedt, Maike;
    • Alekov, Alexi K;
    • Sander, Thomas;
    • Ramírez, Alfredo;
    • Poser, Barbara;
    • Maljevic, Snezana;
    • Hebeisen, Simon;
    • Kubisch, Christian;
    • Rebstock, Johannes;
    • Horvath, Steve;
    • Hallmann, Kerstin;
    • Dullinger, Joern S;
    • Rau, Birgit;
    • Haverkamp, Fritz;
    • Beyenburg, Stefan;
    • Schulz, Herbert;
    • Janz, Dieter;
    • Giese, Bernd;
    • Müller-Newen, Gerhard
    Publication type:
    Correction Notice
    32

    CLCN2 variants in idiopathic generalized epilepsy.

    Published in:
    2009
    By:
    • Kleefuß-Lie, Ailing;
    • Friedl, Waltraut;
    • Cichon, Sven;
    • Haug, Karsten;
    • Warnstedt, Maike;
    • Alekov, Alexi;
    • Sander, Thomas;
    • Ramirez, Alfredo;
    • Poser, Barbara;
    • Maljevic, Snezana;
    • Hebeisen, Simon;
    • Kubisch, Christian;
    • Rebstock, Johannes;
    • Horvath, Steve;
    • Hallmann, Kerstin;
    • Dullinger, Jörn S.;
    • Rau, Birgit;
    • Haverkamp, Fritz;
    • Beyenburg, Stefan;
    • Schulz, Herbert
    Publication type:
    Letter
    33
    34

    GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak.

    Published in:
    2008
    By:
    • Weber, Yvonne G.;
    • Storch, Alexander;
    • Wuttke, Thomas V.;
    • Brockmann, Knut;
    • Kempfle, Judith;
    • Maljevic, Snezana;
    • Margari, Lucia;
    • Kamm, Christoph;
    • Schneider, Susanne A.;
    • Huber, Stephan M.;
    • Pekrun, Arnulf;
    • Roebling, Robert;
    • Seebohm, Guiscard;
    • Koka, Saisudha;
    • Lang, Camelia;
    • Kraft, Eduard;
    • Blazevic, Dragica;
    • Salvo-Vargas, Alberto;
    • Fauler, Michael;
    • Mottaghy, Felix M.
    Publication type:
    journal article