Holger Lerche

Research interests

Publications

• Current practice in diagnostic genetic testing of the epilepsies

  Epileptic Disorders · 2022 · https://doi.org/10.1684/epd.2022.1448

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

  Science Translational Medicine · 2020 · https://doi.org/10.1126/scitranslmed.aay6848

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

  Epilepsia · 2020 · https://doi.org/10.1111/epi.16438

• A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

  The American Journal of Human Genetics · 2019 · https://doi.org/10.1016/j.ajhg.2019.04.001

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

  Nature Communications · 2018 · https://doi.org/10.1038/s41467-018-07524-z

• Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability

  Brain · 2018 · https://doi.org/10.1093/brain/awy326

• Clinical spectrum and genotype–phenotype associations of KCNA2-related encephalopathies

  Brain · 2017 · https://doi.org/10.1093/brain/awx184

• Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery

  New England Journal of Medicine · 2017 · https://doi.org/10.1056/nejmoa1703784

• Mutations in GABRB3

  Neurology · 2017 · https://doi.org/10.1212/wnl.0000000000003565

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

  Brain · 2017 · https://doi.org/10.1093/brain/awx054

• Phenotypic spectrum of GABRA1

  Neurology · 2016 · https://doi.org/10.1212/wnl.0000000000003087

• Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation

  Annals of Neurology · 2015 · https://doi.org/10.1002/ana.24580

• CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures

  Neurology · 2015 · https://doi.org/10.1212/wnl.0000000000001305

• CHD2variants are a risk factor for photosensitivity in epilepsy

  Brain · 2015 · https://doi.org/10.1093/brain/awv052

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

  Nature Genetics · 2015 · https://doi.org/10.1038/ng.3239

• Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies

  PLoS Genetics · 2015 · https://doi.org/10.1371/journal.pgen.1005226

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

  Nature Genetics · 2014 · https://doi.org/10.1038/ng.3130

• A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

  Nature Genetics · 2014 · https://doi.org/10.1038/ng.3144

• De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

  The American Journal of Human Genetics · 2013 · https://doi.org/10.1016/j.ajhg.2013.09.017

• Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

  Nature Genetics · 2013 · https://doi.org/10.1038/ng.2728

• RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy

  PLoS ONE · 2013 · https://doi.org/10.1371/journal.pone.0073323

• Randomized phase III study 306

  Neurology · 2012 · https://doi.org/10.1212/wnl.0b013e318254473a

• Targeted next generation sequencing as a diagnostic tool in epileptic disorders

  Epilepsia · 2012 · https://doi.org/10.1111/j.1528-1167.2012.03516.x

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

  Human Molecular Genetics · 2012 · https://doi.org/10.1093/hmg/dds373

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

  Annals of Neurology · 2009 · https://doi.org/10.1002/ana.21724

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

  Brain · 2009 · https://doi.org/10.1093/brain/awp262

• 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

  Nature Genetics · 2009 · https://doi.org/10.1038/ng.292

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

  Journal of Clinical Investigation · 2008 · https://doi.org/10.1172/jci34438

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

  Brain · 2008 · https://doi.org/10.1093/brain/awn113

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

  Journal of Cell Science · 2004 · https://doi.org/10.1242/jcs.01307

• Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current

  Proceedings of the National Academy of Sciences · 2000 · https://doi.org/10.1073/pnas.97.17.9549

Current projects

No projects listed.