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1

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

Muona, Mikko, Berkovic, Samuel F, Dibbens, Leanne M, Oliver, Karen L, Maljevic, Snezana, Bayly, Marta A, Joensuu, Tarja, Canafoglia, Laura, Franceschetti, Silvana, Michelucci, Roberto, Markkinen, Sall

Journal:

Nature Genetics

Year:

2014

Language:

english

File:

PDF, 1.01 MB

english, 2014

2

[Progress in Brain Research] Genetics of Epilepsy Volume 213 || Potassium channel genes and benign familial neonatal epilepsy

Maljevic, Snezana

Year:

2014

Language:

english

File:

PDF, 1.02 MB

english, 2014

3

Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies

Oyrer, Julia, Maljevic, Snezana, Scheffer, Ingrid E., Berkovic, Samuel F., Petrou, Steven, Reid, Christopher A., Sexton, Patrick M.

Journal:

Pharmacological Reviews

Year:

2018

Language:

english

File:

PDF, 928 KB

english, 2018

4

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

Snezana Maljevic, Klaus Krampfl, Joana Cobilanschi, Nikola Tilgen, Susanne Beyer, Yvonne G. Weber, Friedrich Schlesinger, Daniel Ursu, Werner Melzer, Patrick Cossette, Johannes Bufler, Holger Lerche,

Journal:

Annals of Neurology

Year:

2006

Language:

english

File:

PDF, 554 KB

english, 2006

5

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

Cécile Saint-Martin, Grégory Gauvain, Georgeta Teodorescu, Isabelle Gourfinkel-An, Estelle Fedirko, Yvonne G. Weber, Snezana Maljevic, Jan-Peter Ernst, Jennie Garcia-Olivares, Christoph Fahlke, Rima N

Journal:

Year:

2009

Language:

english

File:

PDF, 370 KB

english, 2009

6

Temperature and pharmacological rescue of a folding-defective, dominantl-negative KV7.2 mutation associated with neonatal seizures

Snezana Maljevic, Georgios Naros, Özlem Yalçin, Dragica Blazevic, Heidi Loeffler, Hande Çağlayan, Ortrud K. Steinlein, Holger Lerche

Journal:

Year:

2011

Language:

english

File:

PDF, 701 KB

english, 2011

7

KV7 channelopathies

Snezana Maljevic, Thomas V. Wuttke, Guiscard Seebohm, Holger Lerche

Journal:

Pflügers Archiv European Journal of Physiology

Year:

2010

Language:

english

File:

PDF, 618 KB

english, 2010

8

Molecular analysis of the A322D mutation in the GABAA receptor α1-subunit causing juvenile myoclonic epilepsy

Klaus Krampfl, Snezana Maljevic, Patrick Cossette, Elke Ziegler, Guy A. Rouleau, Holger Lerche, Johannes Bufler

Journal:

European Journal of Neuroscience

Year:

2005

Language:

english

File:

PDF, 412 KB

english, 2005

9

Rapid Report : C-terminal interaction of KCNQ2 and KCNQ3 K+ channels

Snezana Maljevic, Christian Lerche, Guiscard Seebohm, Alexi K. Alekov, Andreas E. Busch, Holger Lerche

Journal:

The Journal of Physiology

Year:

2003

Language:

english

File:

PDF, 552 KB

english, 2003

10

CLCN2 variants in idiopathic generalized epilepsy

Kleefuß-Lie, Ailing, Friedl, Waltraut, Cichon, Sven, Haug, Karsten, Warnstedt, Maike, Alekov, Alexi, Sander, Thomas, Ramirez, Alfredo, Poser, Barbara, Maljevic, Snezana

Journal:

Nature Genetics

Year:

2009

Language:

english

File:

PDF, 177 KB

english, 2009

11

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

Haug, Karsten, Warnstedt, Maike, Alekov, Alexi K, Sander, Thomas, Ramírez, Alfredo, Poser, Barbara, Maljevic, Snezana, Hebeisen, Simon, Kubisch, Christian, Rebstock, Johannes

Journal:

Nature Genetics

Year:

2009

Language:

english

File:

PDF, 72 KB

english, 2009

12

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

Haug, Karsten, Warnstedt, Maike, Alekov, Alexi K., Sander, Thomas, Ramírez, Alfredo, Poser, Barbara, Maljevic, Snezana, Hebeisen, Simon, Kubisch, Christian, Rebstock, Johannes

Journal:

Nature Genetics

Year:

2003

Language:

english

File:

PDF, 1.41 MB

english, 2003

13

Nervous system KV7 disorders: breakdown of a subthreshold brake

Snezana Maljevic, Thomas V. Wuttke, Holger Lerche

Journal:

The Journal of Physiology

Year:

2008

Language:

english

File:

PDF, 543 KB

english, 2008

14

Subthreshold changes of voltage-dependent activation of the KV7.2 channel in neonatal epilepsy

Jessica Hunter, Snezana Maljevic, Anupama Shankar, Anne Siegel, Barbara Weissman, Philip Holt, Larry Olson, Holger Lerche, Andrew Escayg

Journal:

Neurobiology of Disease

Year:

2006

Language:

english

File:

PDF, 435 KB

english, 2006

15

Potassium channels: a review of broadening therapeutic possibilities for neurological diseases

Maljevic, Snezana, Lerche, Holger

Journal:

Journal of Neurology

Year:

2013

Language:

english

File:

PDF, 385 KB

english, 2013

16

Zebrafish Bioassay-Guided Microfractionation Identifies Anticonvulsant Steroid Glycosides from the Philippine Medicinal Plant Solanum torvum

Challal, Soura, Buenafe, Olivia E. M., Queiroz, Emerson F., Maljevic, Snezana, Marcourt, Laurence, Bock, Merle, Kloeti, Werner, Dayrit, Fabian M., Harvey, Alan L., Lerche, Holger, Esguerra, Camila V.,

Journal:

ACS Chemical Neuroscience

Year:

2014

Language:

english

File:

PDF, 2.20 MB

english, 2014

17

An SCN2A mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na + current

Lauxmann, Stephan, Boutry-Kryza, Nadia, Rivier, Clotilde, Mueller, Stephan, Hedrich, Ulrike B. S., Maljevic, Snezana, Szepetowski, Pierre, Lerche, Holger, Lesca, Gaetan

Journal:

Year:

2013

Language:

english

File:

PDF, 261 KB

english, 2013

18

Pathophysiologische Mechanismen genetischer Epilepsien

Hedrich, Ulrike B. S., Maljevic, Snezana

Journal:

Zeitschrift für Epileptologie

Year:

2016

Language:

german

File:

PDF, 639 KB

german, 2016

19

Novel KCNQ3 Mutation in a Large Family with Benign Familial Neonatal Epilepsy: A Rare Cause of Neonatal Seizures

Maljevic, Snezana, Vejzovic, Sabina, Bernhard, Matthias K., Bertsche, Astrid, Weise, Sebastian, Döcker, Miriam, Lerche, Holger, Lemke, Johannes R., Merkenschlager, Andreas, Syrbe, Steffen

Journal:

Molecular Syndromology

Year:

2016

Language:

english

File:

PDF, 385 KB

english, 2016

20

Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy

Corbett, Mark A., Bellows, Susannah T., Li, Melody, Carroll, Renée, Micallef, Silvana, Carvill, Gemma L., Myers, Candace T., Howell, Katherine B., Maljevic, Snezana, Lerche, Holger, Gazina, Elena V.,

Journal:

Year:

2016

Language:

english

File:

PDF, 641 KB

english, 2016

21

Gain-of-function HCN2 variants in genetic epilepsy

Li, Melody, Maljevic, Snezana, Phillips, A. Marie, Petrovski, Slave, Hildebrand, Michael, Burgess, Rosemary, Mount, Therese, Zara, Federico, Striano, Pasquale, Schubert, Julian, Thiele, Holger, Nürnbe

Journal:

Year:

2017

Language:

english

File:

PDF, 1.18 MB

english, 2017

22

SRF modulates seizure occurrence, activity induced gene transcription and hippocampal circuit reorganization in the mouse pilocarpine epilepsy model

Lösing, Pascal, Niturad, Cristina Elena, Harrer, Merle, Reckendorf, Christopher Meyer zu, Schatz, Theresa, Sinske, Daniela, Lerche, Holger, Maljevic, Snezana, Knöll, Bernd

Journal:

Molecular Brain

Year:

2017

Language:

english

File:

PDF, 11.04 MB

english, 2017

23

Expanding the phenotype of TRAK1 mutations: hyperekplexia and refractory status epilepticus

Sagie, Shira, Lerman-Sagie, Tally, Maljevic, Snezana, Yosovich, Keren, Detert, Katja, Chung, Seo-Kyung, Rees, Mark I, Lerche, Holger, Lev, Dorit

Journal:

Year:

2018

Language:

english

File:

PDF, 374 KB

english, 2018

24

Development of a rapid functional assay that predicts GLUT1 disease severity

Zaman, Sasha M., Mullen, Saul A., Petrovski, Slavé, Maljevic, Snezana, Gazina, Elena V., Phillips, A. Marie, Jones, Gabriel Davis, Hildebrand, Michael S., Damiano, John, Auvin, Stéphane, Lerche, Holge

Journal:

Neurology: Genetics

Year:

2018

Language:

english

File:

PDF, 701 KB

english, 2018

25

SCN1A gain-of-function in early infantile encephalopathy

Berecki, Géza, Bryson, Alexander, Terhag, Jan, Maljevic, Snezana, Gazina, Elena V., Hill, Sean L., Petrou, Steven

Journal:

Annals of Neurology

Year:

2019

File:

PDF, 2.25 MB

2019

26

Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations

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, Timo

Journal:

Annals of Clinical and Translational Neurology

Year:

2019

Language:

english

File:

PDF, 866 KB

english, 2019

27

Using a Multiplex Nucleic Acid in situ Hybridization Technique to Determine HCN4 mRNA Expression in the Adult Rodent Brain

Oyrer, Julia, Bleakley, Lauren E., Richards, Kay L., Maljevic, Snezana, Phillips, A. Marie, Petrou, Steven, Nowell, Cameron J., Reid, Christopher A.

Journal:

Frontiers in Molecular Neuroscience

Year:

2019

Language:

english

File:

PDF, 3.11 MB

english, 2019

28

Using a Multiplex Nucleic Acid in situ Hybridization Technique to Determine HCN4 mRNA Expression in the Adult Rodent Brain

Oyrer, Julia, Bleakley, Lauren E., Richards, Kay L., Maljevic, Snezana, Phillips, A. Marie, Petrou, Steven, Nowell, Cameron J., Reid, Christopher A.

Journal:

Frontiers in Molecular Neuroscience

Year:

2019

File:

PDF, 3.11 MB

2019

29

Spectrum of GABAA receptor variants in epilepsy

Maljevic, Snezana, Møller, Rikke S., Reid, Christopher A., Pérez-Palma, Eduardo, Lal, Dennis, May, Patrick, Lerche, Holger

Journal:

Current Opinion in Neurology

Year:

2019

File:

PDF, 586 KB

2019