User profiles for S. Maljevic
Snezana MaljevicVerified email at florey.edu.au Cited by 5798 |
Ion channels in genetic epilepsy: from genes and mechanisms to disease-targeted therapies
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 …
Genetic studies have identified an increasing collection of disease-causing genes. The impact …
Nervous system KV7 disorders: breakdown of a subthreshold brake
… 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 …
amplitudes normalized to the maximum amplitude reached after 2 s at +60 mV. Relative current …
KV7 channelopathies
… 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 …
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 …
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 …
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
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 …
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
Epileptic encephalopathies are a phenotypically and genetically heterogeneous group of
severe epilepsies accompanied by intellectual disability and other neurodevelopmental …
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
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 …
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
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 …
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 …
Maljevic - 2006 - Annals of Neurology - Wiley Online Library … Snezana Maljevic PhD …