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GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak YG Weber, A Storch, TV Wuttke, K Brockmann, J Kempfle, S Maljevic, ... The Journal of clinical investigation 118 (6), 2157-2168, 2008 | 405 | 2008 |
Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1 A Suls, P Dedeken, K Goffin, H Van Esch, P Dupont, D Cassiman, ... Brain 131 (7), 1831-1844, 2008 | 400 | 2008 |
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy M Muona, SF Berkovic, LM Dibbens, KL Oliver, S Maljevic, MA Bayly, ... Nature genetics 47 (1), 39-46, 2015 | 334 | 2015 |
The new anticonvulsant retigabine favors voltage-dependent opening of the Kv7. 2 (KCNQ2) channel by binding to its activation gate TV Wuttke, G Seebohm, S Bail, S Maljevic, H Lerche Molecular pharmacology 67 (4), 1009-1017, 2005 | 323 | 2005 |
Ion channels in genetic epilepsy: from genes and mechanisms to disease-targeted therapies J Oyrer, S Maljevic, IE Scheffer, SF Berkovic, S Petrou, CA Reid Pharmacological reviews 70 (1), 142-173, 2018 | 313 | 2018 |
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy S Syrbe, UBS Hedrich, E Riesch, T Djémié, S Müller, RS Møller, B Maher, ... Nature genetics 47 (4), 393-399, 2015 | 297 | 2015 |
A mutation in the GABAA receptor α1‐subunit is associated with absence epilepsy S Maljevic, K Krampfl, J Cobilanschi, N Tilgen, S Beyer, YG Weber, ... Annals of Neurology: Official Journal of the American Neurological …, 2006 | 274 | 2006 |
Dominant‐negative effects of KCNQ2 mutations are associated with epileptic encephalopathy G Orhan, M Bock, D Schepers, EI Ilina, SN Reichel, H Löffler, N Jezutkovic, ... Annals of neurology 75 (3), 382-394, 2014 | 270 | 2014 |
Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy Y Liao, L Deprez, S Maljevic, J Pitsch, L Claes, D Hristova, A Jordanova, ... Brain 133 (5), 1403-1414, 2010 | 215 | 2010 |
Nervous system KV7 disorders: breakdown of a subthreshold brake S Maljevic, TV Wuttke, H Lerche The Journal of physiology 586 (7), 1791-1801, 2008 | 194 | 2008 |
SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain Y Liao, AK Anttonen, E Liukkonen, E Gaily, S Maljevic, S Schubert, ... Neurology 75 (16), 1454-1458, 2010 | 184 | 2010 |
Phenotypic spectrum of GABRA1 From generalized epilepsies to severe epileptic encephalopathies K Johannesen, C Marini, S Pfeffer, RS Møller, T Dorn, CE Niturad, ... Neurology 87 (11), 1140-1151, 2016 | 159 | 2016 |
KV7 channelopathies S Maljevic, TV Wuttke, G Seebohm, H Lerche Pflügers Archiv-European Journal of Physiology 460, 277-288, 2010 | 145 | 2010 |
Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect YG Weber, C Kamm, A Suls, J Kempfle, K Kotschet, R Schüle, TV Wuttke, ... Neurology 77 (10), 959-964, 2011 | 126 | 2011 |
Mutations in GABRB3 From febrile seizures to epileptic encephalopathies RS Møller, TV Wuttke, I Helbig, C Marini, KM Johannesen, EH Brilstra, ... Neurology 88 (5), 483-492, 2017 | 122 | 2017 |
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy MA Corbett, ST Bellows, M Li, R Carroll, S Micallef, GL Carvill, CT Myers, ... Neurology 87 (19), 1975-1984, 2016 | 110 | 2016 |
SCN1A gain of function in early infantile encephalopathy G Berecki, A Bryson, J Terhag, S Maljevic, EV Gazina, SL Hill, S Petrou Annals of neurology 85 (4), 514-525, 2019 | 105 | 2019 |
Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia N Schwarz, A Hahn, T Bast, S Müller, H Löffler, S Maljevic, E Gaily, I Prehl, ... Journal of neurology 263, 334-343, 2016 | 96 | 2016 |
Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study P May, S Girard, M Harrer, DR Bobbili, J Schubert, S Wolking, F Becker, ... The Lancet Neurology 17 (8), 699-708, 2018 | 95 | 2018 |