S. Maljevic

发表

Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy.

A. Becker, E. Thomas, S. Petrou, 2010, Brain : a journal of neurology.

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

F. Mottaghy, M. Edwards, S. Schneider, 2008, The Journal of clinical investigation.

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

I. Scheffer, C. Reid, S. Berkovic, 2018, Pharmacological Reviews.

Mutations in GABRB3

Ingo Borggraefe, Holger Lerche, Renzo Guerrini, 2017, Neurology.

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features

P. May, R. Krause, S. Haas, 2017, Brain : a journal of neurology.

Phenotypic spectrum of GABRA1

P. Striano, H. Lerche, F. Rosenow, 2016, Neurology.

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

Maja Steinlin, Markus Wolff, Holger Lerche, 2015, Nature Genetics.

Acid sensing ion channel 1a is a key mediator of cardiac ischemia-reperfusion injury

J. Fraser, P. Macdonald, S. Petrou, 2019, bioRxiv.

Acid sensing ion channel 1a is a key mediator of cardiac ischemia-reperfusion injury

J. Fraser, P. Macdonald, S. Petrou, 2019, bioRxiv.

SCN1A gain of function in early infantile encephalopathy

S. Petrou, E. Gazina, Jan Terhag, 2019, Annals of neurology.

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

Michael R. Johnson, A. Uitterlinden, P. May, 2018, The Lancet Neurology.

Zebrafish bioassay-guided microfractionation identifies anticonvulsant steroid glycosides from the Philippine medicinal plant Solanum torvum.

H. Lerche, L. Marcourt, A. Crawford, 2014, ACS chemical neuroscience.

Antisense oligonucleotide therapy for SCN2A gain-of-function epilepsy

C. Reid, S. Petrou, F. Rigo, 2020, bioRxiv.

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

H. Lerche, S. Maljevic, J. Lemke, 2016, Molecular Syndromology.

Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect

W. van Paesschen, R. Schüle, L. Schöls, 2011, Neurology.

Gain‐of‐function HCN2 variants in genetic epilepsy

I. Scheffer, C. Reid, P. Striano, 2018, Human mutation.

CLCN2 variants in idiopathic generalized epilepsy

Christian E Elger, Holger Lerche, Bernd Giese, 2009, Nature Genetics.

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

H. Lerche, U. Hedrich, S. Maljevic, 2013, Epilepsia.

Mechanisms of genetic epilepsies

H. Lerche, U. Hedrich, S. Maljevic, 2013, e-Neuroforum.

A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy.

H. Lerche, A. Heils, Y. Weber, 2006, Annals of neurology.

Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies

P. May, R. Krause, B. Steinhoff, 2022, EBioMedicine.

Kv3.1 channelopathy: a novel loss-of-function variant and the mechanistic basis of its clinical phenotypes

S. Petrou, S. Maljevic, V. Zhang, 2021, Annals of translational medicine.

Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations

Ye Htet Aung, S. Berkovic, S. Petrou, 2019, Annals of clinical and translational neurology.

Antisense oligonucleotide therapy for KCNT1 encephalopathy

C. Reid, S. Petrou, F. Rigo, 2020, bioRxiv.

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

G. D. C. Mendis, C. Reid, S. Petrou, 2020, Stem cell reports.

Potassium channel genes and benign familial neonatal epilepsy.

H. Lerche, S. Maljevic, 2014, Progress in brain research.

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

H. Lerche, G. Teodorescu, J. Poncer, 2009, Human mutation.

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

H. Lerche, S. Maljevic, 2013, Journal of Neurology.

Cation leak underlies neuronal excitability in an HCN1 developmental and epileptic encephalopathy.

Lauren E Bleakley, I. Scheffer, C. Reid, 2021, Brain : a journal of neurology.

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

Holger Lerche, Werner Melzer, H. Lerche, 2006 .

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

S. Horvath, C. Elger, H. Lerche, 2003, Nature Genetics.

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

I. Scheffer, H. Lerche, S. Mandelstam, 2014, Annals of neurology.

The New Anticonvulsant Retigabine Favors Voltage-Dependent Opening of the Kv7.2 (KCNQ2) Channel by Binding to Its Activation Gate

Holger Lerche, Guiscard Seebohm, H. Lerche, 2005, Molecular Pharmacology.

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

H. Lerche, B. Knöll, S. Maljevic, 2017, Molecular Brain.

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

M. Daly, I. Scheffer, A. Palotie, 2014, Nature Genetics.

Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties

C. Reid, J. Massano, D. Friedman, 2017, Annals of neurology.

Rare coding variants in GABAA receptor encoding genes in genetic generalized epilepsies: an exome-based case-control study

Anne, Ruppert, Michael R. Johnson, 2018 .

Models for discovery of targeted therapy in genetic epileptic encephalopathies

C. Reid, S. Petrou, S. Maljevic, 2017, Journal of neurochemistry.

Antisense oligonucleotide therapy reduces seizures and extends life span in an SCN2A gain-of-function epilepsy model.

C. Reid, S. Petrou, F. Rigo, 2021, The Journal of clinical investigation.

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

H. Lerche, G. Teodorescu, J. Poncer, 2009, Human mutation.

Therapeutic Inhibition of Acid-Sensing Ion Channel 1a Recovers Heart Function After Ischemia–Reperfusion Injury

Melanie Y. White, J. Fraser, S. Petrou, 2021, Circulation.

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

S. Horvath, C. Elger, H. Lerche, 2003, Nature Genetics.

Characterization of the GABRB2‐Associated Neurodevelopmental Disorders

L. Vissers, H. Lerche, R. Møller, 2020, Annals of neurology.

Spectrum of GABAA receptor variants in epilepsy

P. May, C. Reid, H. Lerche, 2019, Current opinion in neurology.

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

H. Lerche, G. Rouleau, P. Cossette, 2005, The European journal of neuroscience.

Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia

H. Lerche, E. Gaily, U. Hedrich, 2016, Journal of Neurology.

SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain

S. Petrou, H. Lerche, E. Gaily, 2010, Neurology.

KV7 channelopathies

Holger Lerche, Guiscard Seebohm, H. Lerche, 2010, Pflügers Archiv - European Journal of Physiology.

Distinctive In Vitro Phenotypes in iPSC-Derived Neurons From Patients With Gain- and Loss-of-Function SCN2A Developmental and Epileptic Encephalopathy

C. Reid, S. Petrou, S. Maljevic, 2023, The Journal of Neuroscience.

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

W. van Paesschen, P. Dupont, P. Ryvlin, 2008, Brain : a journal of neurology.

Functional variants in HCN4 and CACNA1H may contribute to genetic generalized epilepsy

C. Elger, C. Reid, S. Petrou, 2017, Epilepsia open.

Channelopathies in Epileptology

H. Lerche, F. Lehmann-Horn, K. Jurkat-Rott, 2011 .

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

Lauren E Bleakley, C. Reid, S. Petrou, 2019, Front. Mol. Neurosci..

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

D. Lev, H. Lerche, T. Lerman-Sagie, 2018, Brain : a journal of neurology.

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

H. Lerche, O. Steinlein, G. Naros, 2011, Human mutation.

Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures.

Ye Htet Aung, A. Munnich, S. Petrou, 2019, Brain : a journal of neurology.

Development of a rapid functional assay that predicts GLUT1 disease severity

I. Scheffer, C. Reid, S. Berkovic, 2018, Neurology: Genetics.

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

Philip J. Holt, H. Lerche, A. Siegel, 2006, Neurobiology of Disease.

Nervous system KV7 disorders: breakdown of a subthreshold brake

H. Lerche, S. Maljevic, T. Wuttke, 2008, The Journal of physiology.

Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy

G. Carvill, I. Scheffer, H. Mefford, 2016, Neurology.

Sodium channel expression and transcript variation in the developing brain of human, Rhesus monkey, and mouse

C. Reid, S. Petrou, V. Perreau, 2022, Neurobiology of Disease.

Loss-of-function variants in the KCNQ5 gene are associated with genetic generalized epilepsies

P. May, R. Krause, B. Steinhoff, 2021, medRxiv.

Enhanced donor heart preservation by therapeutic inhibition of acid sensing ion channel 1a

J. Fraser, P. Macdonald, S. Petrou, 2020 .

Therapeutic Inhibition of Acid-Sensing Ion Channel 1a Recovers Heart Function After Ischemia–Reperfusion Injury

Melanie Y. White, J. Fraser, S. Petrou, 2021, Circulation.

C-terminal interaction of KCNQ2 and KCNQ3 K+ channels

H. Lerche, G. Seebohm, S. Maljevic, 2003 .

Rapid Report

H. Lerche, G. Seebohm, S. Maljevic, 2003 .

Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia

E. Gaily, U. Hedrich, T. Bast, 2016, Journal of Neurology.

Nervous system KV7 disorders: breakdown of a subthreshold brake

H. Lerche, S. Maljevic, Thomas V. Wuttke, 2008, The Journal of physiology.

RETIGABINE :B ENDING POTASSIUM CHANNELS TO OUR WILL The New Anticonvulsant Retigabine Favors Voltage-dependent Opening of the Kv7.2 (KCNQ2) Channel by Binding to Its Activation Gate

G. Seebohm, S. Maljevic, S. Bail, 2005 .