User profiles for S. Maljevic

Snezana Maljevic

Verified email at florey.edu.au
Cited by 5798

Ion channels in genetic epilepsy: from genes and mechanisms to disease-targeted therapies

…, S Maljevic, IE Scheffer, SF Berkovic, S Petrou… - Pharmacological …, 2018 - ASPET
Epilepsy is a common and serious neurologic disease with a strong genetic component.
Genetic studies have identified an increasing collection of disease-causing genes. The impact …

Nervous system KV7 disorders: breakdown of a subthreshold brake

S Maljevic, TV Wuttke, H Lerche - The Journal of physiology, 2008 - Wiley Online Library
… amplitude at +60 mV after a 5 s depolarization and compared to the respective WT
amplitudes normalized to the maximum amplitude reached after 2 s at +60 mV. Relative current …

KV7 channelopathies

S Maljevic, TV Wuttke, G Seebohm… - Pflügers Archiv-European …, 2010 - Springer
… amplitude at +60 mV after a 5 s depolarization and compared with the respective WT
amplitudes normalized to the maximum amplitude reached after 2 s at +60 mV. Relative current …

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

…, A Ramírez, B Poser, S Maljevic, S Hebeisen… - Nature …, 2003 - nature.com
Idiopathic generalized epilepsy (IGE) is an inherited neurological disorder affecting about
0.4% of the world's population. Mutations in ten genes causing distinct forms of idiopathic …

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

…, S Kivity, P Ryvlin, LRF Claes, L Deprez, S Maljevic… - Brain, 2008 - academic.oup.com
… III.17, which started with a 1 s burst of polyspikes on EEG, followed by generalized slow
sharp waves admixed with spikes, which became gradually obscured by muscle artefacts. In the …

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

…, SF Berkovic, LM Dibbens, KL Oliver, S Maljevic… - Nature …, 2015 - nature.com
Progressive myoclonus epilepsies (PMEs) are a group of rare, inherited disorders manifesting
with action myoclonus, tonic-clonic seizures and ataxia. We sequenced the exomes of 84 …

De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

…, P De Jonghe, I Helbig, S Biskup, M Wolff, S Maljevic… - Nature …, 2015 - nature.com
Epileptic encephalopathies are a phenotypically and genetically heterogeneous group of
severe epilepsies accompanied by intellectual disability and other neurodevelopmental …

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… - Molecular pharmacology, 2005 - ASPET
Retigabine (RTG) is an anticonvulsant drug with a novel mechanism of action. It activates
neuronal KCNQ-type K + channels by inducing a large hyperpolarizing shift of steady-state …

Dominant‐negative effects of KCNQ2 mutations are associated with epileptic encephalopathy

…, P De Jonghe, H Lerche, S Maljevic - Annals of …, 2014 - Wiley Online Library
Objective Mutations in KCNQ2 and KCNQ3, encoding the voltage‐gated potassium channels
K V 7.2 and K V 7.3, are known to cause benign familial neonatal seizures mainly by …

A mutation in the GABAA receptor α1‐subunit is associated with absence epilepsy

S Maljevic, K Krampfl, J Cobilanschi… - Annals of Neurology …, 2006 - Wiley Online Library
A mutation in the GABAA receptor α1‐subunit is associated with absence epilepsy -
Maljevic - 2006 - Annals of Neurology - Wiley Online Library … Snezana Maljevic PhD …