N. Schwarz

发表

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

Kenneth D. Mandl, Allison P. Heath, Eric Marsh, 2019, American journal of human genetics.

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

Klaus Lehnert, Holger Lerche, Annapurna Poduri, 2018, American journal of human genetics.

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants

Ethan M. Goldberg, P. May, P. Striano, 2022, Neurology.

Therapeutic Potential of Sodium Channel Blockers as a Targeted Therapy Approach in KCNA1-Associated Episodic Ataxia and a Comprehensive Review of the Literature

H. Lerche, J. Benda, U. Hedrich, 2021, Frontiers in Neurology.

Establishment of a human induced pluripotent stem cell (iPSC) line (HIHDNEi002-A) from a patient with developmental and epileptic encephalopathy carrying a KCNA2 (p.Arg297Gln) mutation.

H. Lerche, U. Mau-Holzmann, S. Liebau, 2019, Stem cell research.

Generation of an induced pluripotent stem cell (iPSC) line from a patient with developmental and epileptic encephalopathy carrying a KCNA2 (p.Leu328Val) mutation.

H. Lerche, U. Mau-Holzmann, S. Liebau, 2018, Stem cell research.

Clinical and genetic spectrum of SCN2A-associated episodic ataxia.

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

Human Cerebrospinal Fluid Induces Neuronal Excitability Changes in Resected Human Neocortical and Hippocampal Brain Slices

H. Koch, G. Zeck, A. Corna, 2019, bioRxiv.

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.

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.

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

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

Irradiation enhances the therapeutic effect of the oncolytic adenovirus XVir-N-31 in brain tumor initiating cells

H. Koch, U. Naumann, P. Holm, 2019, International journal of molecular medicine.

Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy

Carol J. Saunders, C. Saunders, I. Thiffault, 2019, bioRxiv.

De novo variants in neurodevelopmental disorders with epilepsy

M. Daly, P. May, Sitao Wu, 2018, Nature Genetics.

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.

Microglial inclusions and neurofilament light chain release follow neuronal α-synuclein lesions in long-term brain slice cultures

H. Koch, M. Jucker, D. Shimshek, 2021, Molecular neurodegeneration.

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

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

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.

Whole-Exome Sequencing in NF1-Related West Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for Epilepsy

Manuela Pendziwiat, H. Muhle, Y. Weber, 2020, Neuropediatrics.

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.

Long-term adult human brain slice cultures as a model system to study human CNS circuitry and disease

H. Koch, J. Honegger, A. Becker, 2019, eLife.

Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series

Manuela Pendziwiat, Y. Weber, I. Helbig, 2022, EBioMedicine.

Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 associated with Developmental and Epileptic Encephalopathy and Autism Spectrum Disorder

Manuela Pendziwiat, Y. Weber, I. Helbig, 2021, bioRxiv.

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.

Microglial inclusions and neurofilament light chain release follow neuronal α-synuclein lesions in long-term brain slice cultures

H. Koch, M. Jucker, D. Shimshek, 2021, Molecular Neurodegeneration.

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.

KCNC2 variants of uncertain significance are also associated to various forms of epilepsy

Manuela Pendziwiat, Y. Weber, I. Helbig, 2023, Frontiers in Neurology.

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

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

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.

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.

De novo variants in neurodevelopmental disorders with epilepsy

M. Daly, P. May, Sitao Wu, 2018, Nature Genetics.

author-version of: De novo variants in neurodevelopmental disorders with epilepsy

J. Serratosa, J. Kosmicki, Manuela Pendziwiat, 2022 .

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.