Lerche, Holger

Analysis of shared heritability in common disorders of the brain

The Brainstorm Consortium, Anttila, V., Bulik-Sullivan, B., Finucane, H. K., Walters, R. K., Bras, J., Duncan, L., Escott-Price, V., Falcone, G. J., Gormley, P., et al. (2018) · Science

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 1,924

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

Wolff, M., Johannesen, K. M., Hedrich, U. B. S., Masnada, S., Rubboli, G., Gardella, E., Lesca, G., Ville, D., Milh, M., Villard, L., et al. (2017) · Brain

Epilepsy research and treatmentIon channel regulation and function

Cited by 600

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

Helbig, I., Mefford, H. C., Sharp, A. J., Guipponi, M., Fichera, M., Franke, A., Muhle, H., de Kovel, C., Baker, C., von Spiczak, S., et al. (2009) · Nature Genetics

Epilepsy research and treatmentGenomic variations and chromosomal abnormalities

Cited by 551

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

The International League Against Epilepsy Consortium on Complex Epilepsies, Abou-Khalil, B., Auce, P., Avbersek, A., Bahlo, M., Balding, D. J., Bast, T., Baum, L., Becker, A. J., Becker, F., et al. (2018) · Nature Communications

Epilepsy research and treatmentGenetic Associations and Epidemiology

Cited by 482

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

de Kovel, C. G. F., Trucks, H., Helbig, I., Mefford, H. C., Baker, C., Leu, C., Kluck, C., Muhle, H., von Spiczak, S., Ostertag, P., et al. (2010) · Brain

Genomic variations and chromosomal abnormalitiesEpilepsy research and treatment

Cited by 445

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

Suls, A., Jaehn, J. A., Kecskés, A., Weber, Y., Weckhuysen, S., Craiu, D. C., Siekierska, A., Djémié, T., Afrikanova, T., Gormley, P., et al. (2013) · The American Journal of Human Genetics

Epilepsy research and treatmentIon channel regulation and function

Cited by 219

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

Liao, Y., Deprez, L., Maljevic, S., Pitsch, J., Claes, L., Hristova, D., Jordanova, A., Ala-Mello, S., Bellan-Koch, A., Blazevic, D., et al. (2010) · Brain

Epilepsy research and treatmentIon channel regulation and function

Cited by 185

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

Liao, Y., Anttonen, A.-K., Liukkonen, E., Gaily, E., Maljevic, S., Schubert, S., Bellan-Koch, A., Petrou, S., Ahonen, V. E., Lerche, H., et al. (2010) · Neurology

Epilepsy research and treatmentIon channel regulation and function

Cited by 170

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

Masnada, S., Hedrich, U. B. S., Gardella, E., Schubert, J., Kaiwar, C., Klee, E. W., Lanpher, B. C., Gavrilova, R. H., Synofzik, M., Bast, T., et al. (2017) · Brain

Epilepsy research and treatmentIon channel regulation and function

Cited by 164

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

Hedrich, U. B. S., Liautard, C., Kirschenbaum, D., Pofahl, M., Lavigne, J., Liu, Y., Theiss, S., Slotta, J., Escayg, A., Dihné, M., et al. (2014) · The Journal of Neuroscience

Epilepsy research and treatmentIon channel regulation and function

Cited by 164

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

Johannesen, K. M., Liu, Y., Koko, M., Gjerulfsen, C. E., Sonnenberg, L., Schubert, J., Fenger, C. D., Eltokhi, A., Rannap, M., Koch, N. A., et al. (2022) · Brain

Epilepsy research and treatmentIon channel regulation and function

Cited by 147

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

Heyne, H. O., Baez-Nieto, D., Iqbal, S., Palmer, D. S., Brunklaus, A., May, P., Collaborative, E., Johannesen, K. M., Lauxmann, S., Lemke, J. R., et al. (2020) · Science Translational Medicine

Ion channel regulation and functionGenomics and Rare Diseases

Cited by 140

RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy

Lal, D., Reinthaler, E. M., Altmüller, J., Toliat, M. R., Thiele, H., Nürnberg, P., Lerche, H., Hahn, A., Møller, R. S., Muhle, H., et al. (2013) · PLoS ONE

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 113

CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures

Thomas, R. H., Zhang, L. M., Carvill, G. L., Archer, J. S., Heavin, S. B., Mandelstam, S. A., Craiu, D., Berkovic, S. F., Gill, D. S., Mefford, H. C., et al. (2015) · Neurology

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 100

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

Schwarz, N., Hahn, A., Bast, T., Müller, S., Löffler, H., Maljevic, S., Gaily, E., Prehl, I., Biskup, S., Joensuu, T., et al. (2016) · Journal of Neurology

Ion channel regulation and functionEpilepsy research and treatment

Cited by 95

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

Hedrich, U. B. S., Lauxmann, S., Wolff, M., Synofzik, M., Bast, T., Binelli, A., Serratosa, J. M., Martínez-Ulloa, P., Allen, N. M., King, M. D., et al. (2021) · Science Translational Medicine

Ion channel regulation and functionEpilepsy research and treatment

Cited by 87

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

Balestrini, S., Chiarello, D., Gogou, M., Silvennoinen, K., Puvirajasinghe, C., Jones, W. D., Reif, P., Klein, K. M., Rosenow, F., Weber, Y. G., et al. (2021) · Journal of Neurology, Neurosurgery & Psychiatry

Epilepsy research and treatmentGenomics and Rare Diseases

Cited by 49

The role of common genetic variation in presumed monogenic epilepsies

Campbell, C., Leu, C., Feng, Y.-C. A., Wolking, S., Moreau, C., Ellis, C., Ganesan, S., Martins, H., Oliver, K., Boothman, I., et al. (2022) · eBioMedicine

Epilepsy research and treatmentGenomics and Rare Diseases

Cited by 42

Extending the phenotypic spectrum of RBFOX 1 deletions: Sporadic focal epilepsy

Lal, D., Pernhorst, K., Klein, K. M., Reif, P., Tozzi, R., Toliat, M. R., Winterer, G., Neubauer, B., Nürnberg, P., Rosenow, F., et al. (2015) · Epilepsia

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 40

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

Johannesen, K. M., Miranda, M. J., Lerche, H., & Møller, R. S. (2016) · Journal of Neurology

Epilepsy research and treatmentIon channel regulation and function

Cited by 18