H. Lerche

P. Striano, H. Lerche, L. Griffiths, 2019, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Letter to the editor: confirming neonatal seizure and late onset ataxia in SCN2A Ala263Val

H. Lerche, R. Møller, K. Johannesen, 2016, Journal of Neurology.

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.

V23. Mutations in STX1B encoding a presynaptic protein cause fever-associated epilepsy syndromes

H. Lerche, A. Siekierska, Y. Weber, 2015, Clinical Neurophysiology.

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies.

C. Baker, H. Mefford, E. Eichler, 2010, Brain : a journal of neurology.

Erratum: Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy (Epilepsia (2013) 54 (256-264) DOI:10.1111/epi.12517)

H. Mefford, C. Elger, A. Scabar, 2013 .

Correction: RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy

H. Lerche, H. Muhle, R. Møller, 2013, PLoS ONE.

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

U. Stephani, H. Lerche, J. Serratosa, 2013, Nature Genetics.

Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations

H. Lerche, F. Lehmann-Horn, K. Jurkat-Rott, 2007, Neurology.

GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy

P. Striano, H. Lerche, J. Serratosa, 2012, Neurology.

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

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

A multicenter survey of clinical experiences with perampanel in real life in Germany and Austria

A. Schulze-Bonhage, B. Steinhoff, T. Mayer, 2014, Epilepsy Research.

Learning with phenotypic similarity improves the prediction of functional effects of missense variants in voltage-gated sodium channels

H. Lerche, N. Pfeifer, U. Hedrich, 2022, bioRxiv.

Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy.

S. Berkovic, D. Lowenstein, H. Lerche, 2019, The New England journal of medicine.

Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress

Ethan M. Goldberg, S. Berkovic, D. Lowenstein, 2022, Epilepsia.

Cu2+(1,10 phenanthroline)3 is an open‐channel blocker of the human skeletal muscle sodium channel

H. Lerche, M. O. Popa, 2006, British journal of pharmacology.

Possible effect of corticoids on hemiplegic attacks in severe hemiplegic migraine.

H. Lerche, K. Jurkat-Rott, M. Schöning, 2013, Pediatric neurology.

Focal epilepsy in Glucose transporter type 1 (Glut1) defects: case reports and a review of literature

T. Mayer, H. Lerche, Y. Weber, 2014, Journal of Neurology.

Linking neuronal and hemodynamic network signatures in the resting human brain

C. Braun, H. Lerche, N. Focke, 2022, bioRxiv.

Roleinfast inactivation oftheIV/S4-S5 loopofthehuman muscle Naechannel probedbycysteine mutagenesis

H. Lerche, N. Mitrović, U. Pika-Hartlaub, 2011 .

In vitro neuronal network activity as a new functional diagnostic system to detect effects of Cerebrospinal fluid from autoimmune encephalitis patients

H. Koch, C. Elger, H. Lerche, 2019, Scientific Reports.

Quinidine impairs proliferation of neurofibromatosis type 2‐deficient human malignant mesothelioma cells

H. Lerche, M. Giovannini, C. Hanemann, 2003, Cancer.

Generation of an induced pluripotent stem cell (iPSC) line (HIHDNEi003-A) from a patient with developmental and epileptic encephalopathy carrying a KCNA2 (p.Thr374Ala) mutation.

H. Lerche, N. Schwarz, Betül Uysal, 2019, Stem cell research.

Ictal Electroencephalographic Characteristics of Nodding Syndrome: A Comparative Case‐Series from South Sudan, Tanzania, and Uganda

J. Sejvar, J. Engel, A. Winkler, 2022, Annals of neurology.

Retigabine/Ezogabine, a KCNQ/KV7 channel opener: pharmacological and clinical data

H. Lerche, M. Schwab, A. Nies, 2012, Expert opinion on pharmacotherapy.

Increased Functional MEG Connectivity as a Hallmark of MRI-Negative Focal and Generalized Epilepsy

C. Braun, H. Lerche, N. Focke, 2018, Brain Topography.

Differences Between MEG and High-Density EEG Source Localizations Using a Distributed Source Model in Comparison to fMRI

M. Erb, C. Braun, K. Scheffler, 2014, Brain Topography.

New hope for the treatment of epilepsy.

H. Lerche, 2015, Brain : a journal of neurology.

Do Glut1 (glucose transporter type 1) defects exist in epilepsy patients responding to a ketogenic diet?

C. Elger, H. Lerche, Y. Weber, 2015, Epilepsy Research.

Optically pumped magnetometers detect altered maximal muscle activity in neuromuscular disease

C. Braun, P. Broser, M. Siegel, 2022, Frontiers in Neuroscience.

Optically pumped magnetometers reveal fasciculations non-invasively

C. Braun, P. Broser, M. Siegel, 2021, Clinical Neurophysiology.

Impact of Genetic Polymorphisms of ABCB1 (MDR1, P-Glycoprotein) on Drug Disposition and Potential Clinical Implications: Update of the Literature

H. Lerche, M. Schwab, E. Schaeffeler, 2015, Clinical Pharmacokinetics.

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.

Ion channels and epilepsy.

H. Lerche, F. Lehmann-Horn, K. Jurkat-Rott, 2001, American journal of medical genetics.

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.

KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.

H. Rehm, H. Lerche, H. Bolz, 2021, Human molecular genetics.

Eryptosis, a Window to Systemic Disease

H. Lerche, F. Lang, M. Föller, 2008, Cellular Physiology and Biochemistry.

Chorein‐sensitive polymerization of cortical actin and suicidal cell death in chorea‐acanthocytosis

L. Schöls, C. Stournaras, H. Lerche, 2012, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

CHD2 variants are a risk factor for photosensitivity in epilepsy

I. Scheffer, H. Mefford, R. Krause, 2015, Brain : a journal of neurology.

Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies

Michael R. Johnson, I. Scheffer, D. Goldstein, 2014, The Lancet Neurology.

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

Christian E Elger, Holger Lerche, Ulrich Stephani, 2009, Nature Genetics.

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

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

The role of genetic testing in epilepsy diagnosis and management

H. Lerche, Y. Weber, K. Helbig, 2017, Expert review of molecular diagnostics.

Axon initial segment dysfunction in a mouse model of genetic epilepsy with febrile seizures plus.

Holger Lerche, Steven Petrou, Marie-Therese Horstmann, 2010, The Journal of clinical investigation.

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

L. Lagae, P. Striano, T. Loddenkemper, 2017, Brain : a journal of neurology.

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN 2 A-related disorders

L. Lagae, P. Striano, T. Loddenkemper, 2017 .

A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions

F. Bretschneider, H. Lerche, O. Steinlein, 1999, Annals of neurology.

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

J. Roach, P. May, D. Galas, 2014, Nature Genetics.

GLUT1 gene mutations cause sporadic paroxysmal exercise‐induced dyskinesias

J. Hardy, N. Quinn, K. Bhatia, 2009, Movement disorders : official journal of the Movement Disorder Society.

Clinical spectrum of STX1B-related epileptic disorders

A. Pagnamenta, P. May, W. van Paesschen, 2019, Neurology.

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

C. Gieger, I. Scheffer, T. Wienker, 2012, Human molecular genetics.

Synaptic or ion channel modifier? PRRT2 is a chameleon-like regulator of neuronal excitability.

H. Lerche, 2018, Brain : a journal of neurology.

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

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

Gene family information facilitates variant interpretation and identification of disease-associated genes

M. Daly, P. May, R. Krause, 2017, bioRxiv.

Clinical spectrum and genotype‐phenotype associations of KCNA2‐related encephalopathies

J. Conroy, S. Sisodiya, H. Lerche, 2017, Brain : a journal of neurology.

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

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

Efficacy and safety of ezogabine/retigabine as adjunctive therapy to specified single antiepileptic medications in an open-label study of adults with partial-onset seizures

H. Lerche, J. Daniluk, C. Brandt, 2015, Seizure.

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.

A genome‐wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine

Michael R. Johnson, Josemir W Sander, H. Stefánsson, 2019, Epilepsia open.

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.

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

Oriane Trouillard, Christel Depienne, Emmanuel Roze, 2014, Nature Genetics.

Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy

M. Daly, H. Rehm, Douglas R. Smith, 2019, Genetics in Medicine.

Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

Michael R. Johnson, S. Gabriel, M. Daly, 2019, bioRxiv.

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

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

DEPDC5 mutations in genetic focal epilepsies of childhood

Holger Lerche, Amit Kawalia, Kamel Jabbari, 2014, Annals of neurology.

Exon‐disrupting deletions of NRXN1 in idiopathic generalized epilepsy

H. Mefford, H. Wichmann, U. Stephani, 2013, Epilepsia.

Exploration of the Genetic Architecture of Idiopathic Generalized Epilepsies

I. Scheffer, C. Elger, S. Lorenz, 2006, Epilepsia.

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.

Human Cerebrospinal fluid promotes long-term neuronal viability and network function in human neocortical organotypic brain slice cultures

H. Koch, J. Honegger, H. Lerche, 2017, Scientific Reports.

Hyperexcitable interneurons trigger cortical spreading depression in an Scn1a migraine model

P. Gavazzo, H. Fuchs, N. Plesnila, 2021, The Journal of clinical investigation.

Efficient generation of neural stem cell-like cells from adult human bone marrow stromal cells

H. Lerche, B. Boehm, A. Storch, 2004, Journal of Cell Science.

Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

Christian Gieger, Norman Delanty, Ellen Campbell, 2018, Nature Communications.

Impaired Action Potential Initiation in GABAergic Interneurons Causes Hyperexcitable Networks in an Epileptic Mouse Model Carrying a Human NaV1.1 Mutation

H. Beck, H. Lerche, U. Hedrich, 2014, The Journal of Neuroscience.

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

Anne, Ruppert, Michael R. Johnson, 2018 .

Biological concepts in human sodium channel epilepsies and their relevance in clinical practice

Jen Q. Pan, Stephan J Sanders, H. Lerche, 2020, Epilepsia.

Mutant Plasticity Related Gene 1 (PRG1) acts as a potential modifier in SCN1A related epilepsy

U. Stephani, H. Lerche, D. Schmitz, 2018, bioRxiv.

Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes

A. Hofman, A. Uitterlinden, P. May, 2016, PloS one.

Genetic mechanisms in idiopathic epilepsies

H. Lerche, Y. Weber, 2008, Developmental medicine and child neurology.

Ion channel defects in idiopathic epilepsies.

H. Lerche, Y. Weber, F. Lehmann-Horn, 2005, Current pharmaceutical design.

Chapter 8 Sodium channelopathies in skeletal muscle and brain

H. Lerche, F. Lehmann-Horn, K. Jurkat-Rott, 2002 .

Generalized epilepsy with febrile seizures plus

H. Lerche, Y. Weber, A. Ludolph, 2001, Neurology.

Enhanced inactivation and acceleration of activation of the sodium channel associated with epilepsy in man

H. Lerche, F. Lehmann-Horn, N. Mitrović, 2001, The European journal of neuroscience.

A sodium channel mutation causing epilepsy in man exhibits subtle defects in fast inactivation and activation in vitro

H. Lerche, N. Mitrović, Alexi K. Alekov, 2000, The Journal of physiology.

A BFIS‐like syndrome with late onset and febrile seizures: Suggestive linkage to chromosome 16p11.2–16q12.1

H. Lerche, Y. Weber, M. Jacob, 2008, Epilepsia.

K(+)‐aggravated myotonia: destabilization of the inactivated state of the human muscle Na+ channel by the V1589M mutation.

H. Lerche, F. Lehmann-Horn, C. Fahlke, 1994, The Journal of physiology.

No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy

I. Scheffer, P. Striano, A. Becker, 2019, Epilepsia.

Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies

P. Striano, A. Coppola, S. Sisodiya, 2021, Journal of Neurology, Neurosurgery, and Psychiatry.

Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery

Maria Thom, Pavel Krsek, John S. Duncan, 2017, The New England journal of medicine.

C. Gerloff, P. Striano, L. Schöls, 2013, Journal of Neurology.

Efficacy and safety of adjunctive ezogabine (retigabine) in refractory partial epilepsy

C. Elger, M. Brodie, H. Lerche, 2010, Neurology.

Mesodermal cell types induce neurogenesis from adult human hippocampal progenitor cells

Johannes Schwarz, Holger Lerche, Stefan Liebau, 2006, Journal of neurochemistry.

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

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

Antiepileptic drug therapy: Does mechanism of action matter?

Holger Lerche, Graeme J. Sills, Antonio Gil-Nagel, 2011, Epilepsy & Behavior.

Skeletal muscle channelopathies

H. Lerche, F. Lehmann-Horn, K. Jurkat-Rott, 2002, Journal of Neurology.

In vitro neuronal network activity as a new functional diagnostic system to detect effects of Cerebrospinal fluid from autoimmune encephalitis patients

H. Koch, C. Elger, H. Lerche, 2019, Scientific Reports.

Distinct gene-set burden patterns underlie common generalized and focal epilepsies

P. May, R. Krause, H. Lerche, 2021, EBioMedicine.

Ultra-rare constrained missense variants in the epilepsies: Shared and specific enrichment patterns in neuronal gene-sets

P. May, R. Krause, H. Lerche, 2021, bioRxiv.

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.

C. Gieger, M. Waldenberger, I. Scheffer, 2014, Human molecular genetics.

Frequent genes in rare diseases: panel‐based next generation sequencing to disclose causal mutations in hereditary neuropathies

I. Katona, T. Hornemann, B. Schlotter-Weigel, 2017, Journal of neurochemistry.

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

M. Daly, P. May, R. Krause, 2020, Genome Medicine.

Genetic potassium channel-associated epilepsies: Clinical review of the Kv family.

H. Lerche, M. King, S. Weckhuysen, 2019, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Heterozygous variants in KCNC2 cause a broad spectrum of epilepsy phenotypes associated with characteristic functional alterations

P. May, P. Striano, H. Lerche, 2021, medRxiv.

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.

Ethan M. Goldberg, Joshua E. Motelow, I. Scheffer, 2021, American journal of human genetics.

An identical‐by‐descent novel splice‐donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families

H. Lerche, G. Stevanin, P. Nürnberg, 2021, Annals of human genetics.

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

Ethan M. Goldberg, S. Scherer, J. Howe, 2021, medRxiv.

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.

Chapter 23 Skeletal muscle channelopathies: myotonias, periodic paralyses and malignant hyperthermia

H. Lerche, F. Lehmann-Horn, K. Jurkat-Rott, 2003 .

Homozygous mutation in TXNRD1 is associated with genetic generalized epilepsy

C. Elger, H. Lerche, Y. Weber, 2017, Free radical biology & medicine.

Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients

Michael R. Johnson, Josemir W Sander, A. Ingason, 2017, Neurology.

Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy

H. Lerche, F. Zimprich, P. Nürnberg, 2014, Epilepsia.

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.

Pharmacoresponse in genetic generalized epilepsy: a genome-wide association study.

Michael R. Johnson, Josemir W Sander, R. Krause, 2020, Pharmacogenomics.

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.

Different effects on gating of three myotonia‐causing mutations in the inactivation gate of the human muscle sodium channel.

H. Lerche, F. Lehmann-Horn, C. Fahlke, 1995, The Journal of physiology.

Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III‐IV linker.

H. Lerche, N. Mitrović, T. Weiss, 1993, The Journal of physiology.

A genome-wide association study in autoimmune neurological syndromes with anti-GAD65 autoantibodies

C. Elger, W. Lieb, J. Wellmer, 2022, Brain : a journal of neurology.

Hereditary channelopathies in neurology.

H. Lerche, F. Lehmann-Horn, K. Jurkat-Rott, 2010, Advances in experimental medicine and biology.

Sodium and calcium channelopathies of sarcolemma: Periodic paralyses, paramyotonia congenita and potassium-aggravated myotonia

H. Lerche, N. Mitrović, 2000 .

Differential excitatory vs inhibitory SCN expression at single cell level regulates brain sodium channel function in neurodevelopmental disorders.

Sean K. Simmons, Cynthia C. Hession, Stephan J Sanders, 2019, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Differential roles of S6 domain hinges in the gating of KCNQ potassium channels.

M. Sanguinetti, H. Lerche, K. Kamiya, 2006, Biophysical journal.

KV7 channelopathies

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

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A

A. Ramasamy, I. Scheffer, H. Hakonarson, 2013, Brain : a journal of neurology.

Genetics of paroxysmal dyskinesias

H. Lerche, Y. Weber, 2009, Current neurology and neuroscience reports.

Early‐onset absence epilepsy caused by mutations in the glucose transporter GLUT1

I. Scheffer, S. Berkovic, H. Lerche, 2009, Annals of neurology.

Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability

H. Lerche, J. Benda, R. Møller, 2019, Brain : a journal of neurology.

The LaLiMo Trial: lamotrigine compared with levetiracetam in the initial 26 weeks of monotherapy for focal and generalised epilepsy—an open-label, prospective, randomised controlled multicenter study

C. Schade-Brittinger, W. Oertel, H. Lerche, 2012, Journal of Neurology, Neurosurgery & Psychiatry.

Novel anticonvulsant drugs targeting voltage-dependent ion channels

H. Lerche, T. Wuttke, Thomas V. Wuttke, 2006, Expert opinion on investigational drugs.

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.

Genome‐wide linkage meta‐analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies

I. Scheffer, C. Elger, R. Kaneva, 2012, Epilepsia.

Channelopathies in Epileptology

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

Lack of evidence of an allelic association of a functional GABRB3 exon 1a promoter polymorphism with idiopathic generalized epilepsy

U. Stephani, H. Lerche, A. Heils, 2007, Epilepsy Research.

Benign Familial Infantile Convulsions: Linkage to Chromosome 16p12‐q12 in 14 Families

U. Stephani, H. Lerche, Y. Weber, 2004, Epilepsia.

Regulation of ClC-2 gating by intracellular ATP

H. Lerche, G. Teodorescu, P. Nürnberg, 2013, Pflügers Archiv - European Journal of Physiology.

Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.

A. Need, D. Smedley, C. Tregidgo, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Strength and muscle structure preserved during long-term therapy in a patient with hypokalemic periodic paralysis (Cav1.1-R1239G)

H. Lerche, M. Weber, F. Lehmann-Horn, 2019, Journal of Neurology.

Paramyotonia congenita: The R1448P Na+ channel mutation in adult human skeletal muscle

H. Lerche, V. Dubowitz, F. Lehmann-Horn, 1996, Annals of neurology.

A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity

H. Lerche, F. Lehmann-Horn, N. Mitrović, 1997, Neurology.

Nerve Ultrasound Predicts Treatment Response in Chronic Inflammatory Demyelinating Polyradiculoneuropathy—a Prospective Follow-Up

H. Lerche, H. Axer, M. Krumbholz, 2018, Neurotherapeutics.

Novel treatment approaches and pediatric research networks in status epilepticus

L. Lagae, T. Loddenkemper, H. Lerche, 2019, Epilepsy & Behavior.

Cooperative effect of S4–S5 loops in domains D3 and D4 on fast inactivation of the Na+ channel

H. Lerche, F. Lehmann-Horn, S. Bail, 2004, The Journal of physiology.

Mutant channels contribute <50% to Na+ current in paramyotonia congenita muscle.

H. Lerche, F. Lehmann-Horn, R. Rüdel, 1999, Brain : a journal of neurology.

SCN2A channelopathies: Mechanisms and models

H. Lerche, U. Hedrich, S. Lauxmann, 2019, Epilepsia.

Genetic Biomarkers in Epilepsy

H. Lerche, Y. Weber, M. Schwab, 2014, Neurotherapeutics.

Characterization of the high-conductance Ca2+-activated K+ channel in adult human skeletal muscle

H. Lerche, F. Lehmann-Horn, C. Fahlke, 1995, Pflügers Archiv.

Polygenic burden in focal and generalized epilepsies

M. Daly, M. Kanai, Y. Kamatani, 2019, Brain : a journal of neurology.

Using common genetic variants to find drugs for common epilepsies

David F. Smith, C. Gieger, I. Scheffer, 2021, Brain Communications.

Episodic itch in a case of spinal glioma

H. Lerche, M. Dihné, S. Wolking, 2013, BMC Neurology.

Transcription Profiling of Adult and Fetal Human Neuroprogenitors Identifies Divergent Paths to Maintain the Neuroprogenitor Cell State

Johannes Schwarz, Holger Lerche, Alexander Storch, 2007, Stem cells.

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

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

Role in fast inactivation of conserved amino acids in the IV/S4-S5 loop of the human muscle Na+ channel

H. Lerche, F. Lehmann-Horn, N. Mitrović, 1996, Neuroscience Letters.

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.

Expression and functional characterization of the cardiac L-type calcium channel carrying a skeletal muscle DHP-receptor mutation causing hypokalaemic periodic paralysis

N. Klugbauer, H. Lerche, F. Hofmann, 2005, Pflügers Archiv.

A human muscle Na+ channel mutation in the voltage sensor IV/S4 affects channel block by the pentapeptide KIFMK

H. Lerche, F. Lehmann-Horn, N. Mitrović, 1999, The Journal of physiology.

Assessing the role of rare genetic variants in drug‐resistant, non‐lesional focal epilepsy

Michael R. Johnson, R. Krause, P. Striano, 2021, Annals of clinical and translational neurology.

RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy

Holger Lerche, Peter Nürnberg, Hiltrud Muhle, 2013, PloS one.

Development of a rapid functional assay that predicts GLUT1 disease severity

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

Do all patients in the epilepsy monitoring unit experience the same level of comfort? A quantitative exploratory secondary analysis

A. Schulze-Bonhage, S. Lorenzl, A. Staack, 2021, Journal of advanced nursing.

Epilepsy-causing STX1B mutations translate altered protein functions into distinct phenotypes in mouse neurons.

Christian Rosenmund, H. Lerche, C. Freund, 2020, Brain : a journal of neurology.

Retigabine and gabapentin restore channel function and neuronal firing of an epilepsy-associated dominant-negative KCNQ5 variant

H. Lerche, J. Krüger, Johanna Krüger, 2023, bioRxiv.

4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2-encephalopathy

S. Sisodiya, H. Lerche, J. Serratosa, 2021, Science Translational Medicine.

Mutation in the mitochondrial tRNAIle gene causes progressive myoclonus epilepsy

H. Lerche, Y. Weber, W. Kunz, 2013, Seizure.

A SCN8A variant associated with severe early onset epilepsy and developmental delay: Loss- or gain-of-function?

H. Lerche, M. Koko, Yuanyuan Liu, 2021, Epilepsy Research.

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.

Activity of NaV1.2 promotes neurodegeneration in an animal model of multiple sclerosis.

H. Lerche, D. Isbrandt, M. Friese, 2016, JCI insight.

KCNA1 gain‐of‐function epileptic encephalopathy treated with 4‐aminopyridine

H. Lerche, U. Hedrich, E. Cooper, 2023, Annals of clinical and translational neurology.

Neutralization of a negative charge in the S1–S2 region of the KV7.2 (KCNQ2) channel affects voltage‐dependent activation in neonatal epilepsy

H. Lerche, F. Lehmann-Horn, K. Jurkat-Rott, 2008, The Journal of physiology.

Nervous system KV7 disorders: breakdown of a subthreshold brake

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

Predicting functional effects of ion channel variants using new phenotypic machine learning methods

H. Lerche, N. Pfeifer, U. Hedrich, 2023, PLoS Comput. Biol..

Alterations in the α2δ ligand, thrombospondin‐1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies

P. Striano, H. Lerche, F. Zara, 2017, Epilepsia.

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

P. May, R. Balling, H. Lerche, 2020, Brain : a journal of neurology.

Role of GRM4 in idiopathic generalized epilepsies analysed by genetic association and sequence analysis

C. Elger, J. Hampe, U. Stephani, 2010, Epilepsy Research.

Drug-resistant epilepsy — time to target mechanisms

H. Lerche, 2020, Nature Reviews Neurology.

Generalized epilepsy with febrile seizures plus: Further heterogeneity in a large family

H. Lerche, Y. Weber, A. Ludolph, 2001 .

Magnetoencephalography Reveals a Widespread Increase in Network Connectivity in Idiopathic/Genetic Generalized Epilepsy

Silke Klamer, Adham Elshahabi, Holger Lerche, 2015, PloS one.

In vitro effects of eslicarbazepine (S‐licarbazepine) as a potential precision therapy on SCN8A variants causing neuropsychiatric disorders

H. Lerche, U. Hedrich, Y. Sara, 2023 .

Evaluation of cognition, structural, and functional MRI in juvenile myoclonic epilepsy

O. Gruber, E. Kraft, H. Lerche, 2009, Epilepsia.

Relationship of electrophysiological dysfunction and clinical severity in SCN2A‐related epilepsies

H. Lerche, U. Hedrich, J. Lemke, 2018, Human mutation.

Multimodal effective connectivity analysis reveals seizure focus and propagation in musicogenic epilepsy

Christoph Braun, Silke Klamer, Adham Elshahabi, 2015, NeuroImage.

Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia

H. Lerche, E. Gaily, E. Gardella, 2023, medRxiv.

Role in fast inactivation of the IV/S4–S5 loop of the human muscle Na+ channel probed by cysteine mutagenesis

H. Lerche, F. Lehmann-Horn, N. Mitrović, 1997, The Journal of physiology.

Immunohistochemical analysis of KCNQ3 potassium channels in mouse brain

C. Sommer, B. Landwehrmeyer, H. Lerche, 2006, Neuroscience Letters.

Teaching course: ion channelopathies in neurology

H. Lerche, F. Lehmann-Horn, K. Jurkat-Rott, 1999, Journal of Neurology.

Genomic and clinical predictors of lacosamide response in refractory epilepsies

Michael R. Johnson, Josemir W Sander, H. Stefánsson, 2019, Epilepsia open.

Current practice in diagnostic genetic testing of the epilepsies

S. Sisodiya, S. Berkovic, H. Lerche, 2022, Epileptic disorders : international epilepsy journal with videotape.

Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy

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

A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia

R. Schüle, L. Schöls, H. Lerche, 2016, Annals of neurology.

Immunohistochemical analysis of KCNQ2 potassium channels in adult and developing mouse brain

C. Sommer, B. Landwehrmeyer, H. Lerche, 2006, Brain Research.

A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy

C. Elger, H. Lerche, Y. Weber, 2014, Neurology.

Shaping the future of European epilepsy research: Final meeting report from EPICLUSTER

S. Sisodiya, A. Pitkänen, S. Dedeurwaerdere, 2022, Epilepsy Research.

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

J. Lupski, P. May, S. Szelinger, 2019, Nature Communications.

Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy

G. Winterer, A. Becker, H. Lerche, 2015, Epilepsia.

Effects of cysteine mutations in the S 4S 5 linkers from domains D 1 to D 4 on the fast inactivation of the voltage-gated sodium channel

H. Lerche, F. Lehmann-Horn, 2013 .

Direct fluorescent labeling of NF186 and NaV1.6 in living primary neurons using bioorthogonal click chemistry

H. Lerche, D. Grimm, Ivana Nikić-Spiegel, 2022, bioRxiv.

FIRES and NORSE are distinct entities

H. Lerche, Y. Weber, P. Körtvélyessy, 2012, Epilepsia.

Reduced dendritic arborization and hyperexcitability of pyramidal neurons in a Scn1b-based model of Dravet syndrome.

I. Scheffer, V. Wimmer, C. Reid, 2014, Brain : a journal of neurology.

Activity of Na V 1 . 2 promotes neurodegeneration in an animal model of multiple sclerosis

H. Lerche, D. Isbrandt, M. Friese, 2018 .

Desynchronization of temporal lobe theta-band activity during effective anterior thalamus deep brain stimulation in epilepsy

Alireza Gharabaghi, Maximillian Scherer, Luka Milosevic, 2020, NeuroImage.

In vitro effects of S-Licarbazepine as a potential precision therapy on SCN8A variants causing neuropsychiatric disorders

H. Lerche, U. Hedrich, Y. Sara, 2021, bioRxiv.

Dravet Variant SCN1AA1783V Impairs Interneuron Firing Predominantly by Altered Channel Activation

H. Lerche, Jan Benda, H. Koch, 2021, bioRxiv.

Comparative effectiveness of antiepileptic drugs in patients with mesial temporal lobe epilepsy with hippocampal sclerosis

Josemir W Sander, R. Krause, P. Striano, 2017, Epilepsia.

Human Cerebrospinal fluid promotes long-term neuronal viability and network function in human neocortical organotypic brain slice cultures

H. Koch, J. Honegger, H. Lerche, 2017, Scientific Reports.

Neuro-Sweet syndrome - a rare differential diagnosis in aseptic meningoencephalitis

H. Lerche, T. Freilinger, C. Boßelmann, 2019, Neurological Research and Practice.

GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response.

L. Schöls, B. Brais, H. Lerche, 2023, Brain : a journal of neurology.

Activity of NaV 1 . 2 promotes neurodegeneration in an animal model of multiple sclerosis

H. Lerche, D. Isbrandt, M. Friese, 2016 .

Erratum: Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current (Proceedings of National Academy of Sciences of the United States of America (Aug. 15, 2000) 97(17) (9549-9554))

Paul A. Iaizzo, Holger Lerche, Bertrand Fontaine, 2000 .

Genome-wide Association Analysis of Genetic Generalized Epilepsies Implicates Susceptibility Loci at 1q43, 2p16.1, 2q22.3 and 17q21.32 Epicure Consortium

C. Gieger, I. Scheffer, T. Wienker, 2022 .

Heritability of Magnetoencephalography Phenotypes Among Patients With Genetic Generalized Epilepsy and Their Siblings

C. Braun, H. Lerche, R. Kotikalapudi, 2021, Neurology.

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

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

Faculty Opinions recommendation of dCas9-Based Scn1a Gene Activation Restores Inhibitory Interneuron Excitability and Attenuates Seizures in Dravet Syndrome Mice.

H. Lerche, N. Schwarz, 2020, Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature.

Genetic Biomarkers in Epilepsy

H. Lerche, Y. Weber, M. Schwab, 2014, Neurotherapeutics.

Delirium Screening in Aphasic Patients With the Intensive Care Delirium Screening Checklist (ICDSC): A Prospective Cohort Study

H. Lerche, U. Ziemann, Y. Weber, 2019, Front. Neurol..

Differences Between MEG and High-Density EEG Source Localizations Using a Distributed Source Model in Comparison to fMRI

Klaus Scheffler, Michael Erb, Silke Klamer, 2014, Brain Topography.

Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy.

E. Eichler, H. Lerche, R. Møller, 2021, Brain : a journal of neurology.

Significance of Valproate in the Therapy for Focal Epilepsies in Adults

C. Elger, B. Steinhoff, H. Lerche, 2007 .

Predicting the functional effects of voltage-gated potassium channel missense variants with multi-task learning

H. Lerche, I. Helbig, N. Pfeifer, 2021, bioRxiv.

Polygenic risk score analysis reveals shared genetic burden between epilepsy and psychiatric comorbidities

K. Stefánsson, S. Sisodiya, H. Lerche, 2023, medRxiv.

Mutations in plasticity-related-gene-1 (PRG-1) protein contribute to hippocampal seizure susceptibility and modify epileptic phenotype.

U. Stephani, H. Lerche, Jan Baumgart, 2023, Cerebral cortex.

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2023, Human Genomics.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

I. Scheffer, H. Mefford, E. Haan, 2019, American Journal of Human Genetics.

Quantification of brain atrophy in patients with myotonic dystrophy and proximal myotonic myopathy: a controlled 3-dimensional magnetic resonance imaging study

H. Lerche, Y. Weber, J. Kassubek, 2003, Neuroscience Letters.

A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy

I. Scheffer, R. Siebert, U. Stephani, 2010, Epilepsia.

Genetic Animal Models of Epileptic Seizures

S. Petrou, H. Lerche, 2010 .

Unravelling the brain networks driving spike‐wave discharges in genetic generalized epilepsy—common patterns and individual differences

Michael Erb, Justus Marquetand, Silke Klamer, 2018, Epilepsia open.

Predicting functional effects of missense variants in voltage-gated sodium and calcium channels

Jen Q. Pan, M. Daly, P. May, 2019, Science Translational Medicine.

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies.

H. Mefford, P. May, R. Krause, 2017, American journal of human genetics.

Hereditary channelopathies in neurology.

H. Lerche, F. Lehmann-Horn, K. Jurkat-Rott, 2010, Advances in experimental medicine and biology.

Generation of an induced pluripotent stem cell (iPSC) line from a patient with GEFS+ carrying a STX1B (p.Lys45delinsArgMetCysIleGlu and p.Leu46Met) mutation.

H. Lerche, U. Mau-Holzmann, J. Marquetand, 2023, Stem cell research.

Sponge EEG is equivalent regarding signal quality, but faster than routine EEG.

H. Lerche, U. Ziemann, J. Marquetand, 2023, Clinical Neurophysiology Practice.

Two mutations in the IV/S4-S5 segment of the human skeletal muscle Na+ channel disrupt fast and enhance slow inactivation

H. Lerche, F. Lehmann-Horn, N. Mitrović, 2001, Neuroscience Letters.

Ion channel defects in idiopathic epilepsies.

H. Lerche, Y. Weber, F. Lehmann-Horn, 2005, Current pharmaceutical design.

Benign Familial Infantile Convulsions: Linkage to Chromosome 16p12‐q12 in 14 Families

U. Stephani, H. Lerche, Y. Weber, 2004, Epilepsia.

Evaluation of cognition, structural, and functional MRI in juvenile myoclonic epilepsy

O. Gruber, E. Kraft, H. Lerche, 2009, Epilepsia.

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 .

FIRES and NORSE are distinct entities

H. Lerche, Y. Weber, P. Körtvélyessy, 2012, Epilepsia.

Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia.

P. May, R. Balling, B. Asselbergh, 2015, Brain : a journal of neurology.

Multi-spectral diffusion MRI mega-analysis in genetic generalized epilepsy: Relation to outcomes

P. Dechent, H. Lerche, R. Kotikalapudi, 2023, NeuroImage: Clinical.

Nervous system KV7 disorders: breakdown of a subthreshold brake

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

In vitro effects of eslicarbazepine (S‐licarbazepine) as a potential precision therapy on SCN8A variants causing neuropsychiatric disorders

H. Lerche, U. Hedrich, Y. Sara, 2022, British journal of pharmacology.

Clinical spectrum of STX1B-related epileptic disorders

A. Pagnamenta, P. May, W. van Paesschen, 2019, Neurology.

PRRT2 Mutations are the major cause of benign familial infantile seizures

P. Striano, U. Stephani, P. Bauer, 2012, Human mutation.

Diagnostic implications of genetic copy number variation in epilepsy plus

H. Mefford, P. Stankiewicz, L. Lagae, 2019, Epilepsia.

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN 2 A-related disorders

L. Lagae, H. Lerche, G. Rubboli, 2018 .

A conserved threonine in the S1–S2 loop of KV7.2 and KV7.3 channels regulates voltage-dependent activation

H. Lerche, G. Seebohm, S. Maljevic, 2013, Pflügers Archiv - European Journal of Physiology.