Snezana Maljevic

In Vitro Differentiated Human Stem Cell-Derived Neurons Reproduce Synaptic Synchronicity Arising during Neurodevelopment

Filip Rosa, Ashutosh Dhingra, Betuel Uysal, G Dulini C Mendis, Heidi Loeffler, Gina Elsen, Stephan Mueller, Niklas Schwarz, Melissa Castillo-Lizardo, Claire Cuddy, Felicitas Becker, Peter Heutink, Christopher A Reid, Steven Petrou, Holger Lerche, Snezana Maljevic

Journal article  |  2020  |  STEM CELL REPORTS

Neurons differentiated from induced pluripotent stem cells (iPSCs) typically show regular spiking and synaptic activity but lack m..

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

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

Journal article  |  2019  |  FRONTIERS IN MOLECULAR NEUROSCIENCE

Hyperpolarization-activated cyclic nucleotide-gated (HCN) channels carry a non-selective cationic conductance, I h , which is impo..

Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations

Jillian M Cameron, Snezana Maljevic, Umesh Nair, Ye Htet Aung, Benjamin Cogne, Stephane Bezieau, Edward Blair, Bertrand Isidor, Christiane Zweier, Andre Reis, Mary Kay Koenig, Timothy Maarup, Dean Sarco, Alexandra Afenjar, AHM Mahbubul Huq, Mary Kukolich, Thierry Billette de Villemeur, Caroline Nava, Benedicte Heron, Steven Petrou, et al.

Journal article  |  2019  |  ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

OBJECTIVE: To analyze clinical phenotypes associated with KCNC1 variants other than the Progressive Myoclonus Epilepsy-causing var..

Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures

Snezana Maljevic, Boris Keren, Ye Htet Aung, Ian C Forster, Cyril Mignot, Julien Buratti, Aurelie Lafitte, Cecile Freihuber, Lance H Rodan, Ann Bergin, Laurence Hubert, Karine Poirier, Arnold Munnich, Claude Besmond, Natalie Hauser, Rebecca Miller, Kirsty McWalter, Rima Nabbout, Delphine Heron, Eric Leguern, et al.

Journal article  |  2019  |  BRAIN

Spectrum of GABA(A) receptor variants in epilepsy

Snezana Maljevic, Rikke S Moller, Christopher A Reid, Eduardo Perez-Palma, Dennis Lal, Patrick May, Holger Lerche

Journal article  |  2019  |  CURRENT OPINION IN NEUROLOGY

PURPOSE OF REVIEW: Recent publications point to an increasingly important role of variants in genes encoding GABAA receptor subuni..

SCN1A gain of function in early infantile encephalopathy

Geza Berecki, Alexander Bryson, Jan Terhag, Snezana Maljevic, Elena Gazina, Sean L Hill, Steven Petrou

Journal article  |  2019  |  ANNALS OF NEUROLOGY

OBJECTIVE: To elucidate the biophysical basis underlying the distinct and severe clinical presentation in patients with the recurr..

Development of a rapid functional assay that predicts GLUT1 disease severity

Sasha M Zaman, Saul A Mullen, Slave Petrovski, Snezana Maljevic, Elena Gazina, A Marie Phillips, Gabriel Davis Jones, Michael S Hildebrand, John Damiano, Stephane Auvin, Holger Lerche, Yvonne G Weber, Samuel F Berkovic, Ingrid E Scheffer, Christopher A Reid, Steven Petrou

Journal article  |  2018  |  NEUROLOGY-GENETICS

Objective: To examine the genotype to phenotype connection in glucose transporter type 1 (GLUT1) deficiency and whether a simple f..

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

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

Journal article  |  2018  |  Brain

Gain-of-function HCN2 variants in genetic epilepsy

Melody Li, Snezana Maljevic, A Marie Phillips, Slave Petrovski, Michael S Hildebrand, Rosemary Burgess, Therese Mount, Federico Zara, Pasquale Striano, Julian Schubert, Holger Thiele, Peter Nuernberg, Michael Wong, Judith L Weisenberg, Liu Lin Thio, Holger Lerche, Ingrid E Scheffer, Samuel F Berkovic, Steven Petrou, Christopher A Reid

Journal article  |  2018  |  HUMAN MUTATION

Genetic generalized epilepsy (GGE) is a common epilepsy syndrome that encompasses seizure disorders characterized by spike-and-wav..

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

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

Journal article  |  2018  |  PHARMACOLOGICAL REVIEWS

Epilepsy is a common and serious neurologic disease with a strong genetic component. Genetic studies have identified an increasing..