Snezana Maljevic

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

Yvonne Weber, Alexander Storch, Thomas V. Wuttke et al. · Journal of Clinical Investigation · 2008 · 354 citations · Full text

Electrolyte Disorder, Glut1 Mutations, Pathology +19

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

Arvid Suls, Peter Dedeken, Karolien Goffin et al. · Brain · 2008 · 340 citations · Full text

Neurological Disorder, Glucose Uptake, Social Sciences +16

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

Mikko Muona, Samuel F. Berkovic, Leanne M. Dibbens et al. · Nature Genetics · 2014 · 311 citations · Full text

Genetics, Neuroscience, Central Nervous System +3

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

Karsten Haug, Maike Warnstedt, Alexi K. Alekov et al. · Nature Genetics · 2003 · 294 citations · Full text

Genetics, Voltage-gated Chloride Channel, Ion Channels +4

Dominant‐negative effects of <i>KCNQ2</i> mutations are associated with epileptic encephalopathy

Gökce Orhan, Merle Bock, Dorien Schepers et al. · Annals of Neurology · 2013 · 268 citations