661 results on '"Lerche, Holger"'
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2. Optimizing clinical interpretability of functional evidence in epilepsy-related ion channel variants
3. Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect
4. Electrophysiological signatures of a developmental delay in a stem cell model ofKCNQ2developmental and epileptic encephalopathy
5. Complex biophysical changes and reduced neuronal firing in an SCN8A variant associated with developmental delay and epilepsy
6. Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy
7. Complex biophysical changes and reduced neuronal firing in anSCN8Avariant associated with developmental delay and epilepsy
8. Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia
9. Voltage‐gated calcium channels in genetic epilepsies
10. Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
11. Direct fluorescent labeling of NF186 and NaV1.6 in living primary neurons using bioorthogonal click chemistry
12. Faculty Opinions recommendation of On-demand cell-autonomous gene therapy for brain circuit disorders.
13. Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia
14. Predicting functional effects of ion channel variants using new phenotypic machine learning methods
15. Generation of an induced pluripotent stem cell (iPSC) line from a patient with GEFS+ carrying a STX1B (p.Lys45delinsArgMetCysIleGlu and p.Leu46Met) mutation
16. Sponge EEG is equivalent regarding signal quality, but faster than routine EEG
17. KCNA1 gain‐of‐function epileptic encephalopathy treated with 4‐aminopyridine
18. Real‐world data on cannabidiol treatment of various epilepsy subtypes: A retrospective, multicenter study
19. Gentherapien für Epilepsie: Klinische Studien sind auf dem Weg
20. Shaping the future of European epilepsy research: Final meeting report from EPICLUSTER
21. Multi-spectral diffusion MRI mega-analysis in genetic generalized epilepsy: Relation to outcomes
22. In vitro effects of eslicarbazepine (S‐licarbazepine) as a potential precision therapy on SCN8A variants causing neuropsychiatric disorders
23. Optically pumped magnetometers detect altered maximal muscle activity in neuromuscular disease
24. Faculty Opinions recommendation of DNA methylation-based classification of malformations of cortical development in the human brain.
25. Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
26. Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies
27. Current practice in diagnostic genetic testing of the epilepsies
28. Learning with phenotypic similarity improves the prediction of functional effects of missense variants in voltage-gated sodium channels
29. Linking neuronal and hemodynamic network signatures in the resting human brain
30. Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress
31. Author Reply to Peer Reviews of Direct fluorescent labeling of NF186 and NaV1.6 in living primary neurons using bioorthogonal click chemistry
32. Predicting the functional effects of voltage-gated potassium channel missense variants with multi-task learning
33. The role of common genetic variation in presumed monogenic epilepsies
34. Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder
35. Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood
36. Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants
37. Ictal Electroencephalographic Characteristics of Nodding Syndrome: A Comparative Case‐Series from South Sudan, Tanzania, and Uganda
38. Combined electrophysiological and morphological phenotypes in patients with genetic generalized epilepsy and their healthy siblings
39. Direct fluorescent labeling of NF186 and NaV1.6 in living primary neurons using bioorthogonal click chemistry
40. Faculty Opinions recommendation of Antisense oligonucleotide therapy reduces seizures and extends life span in an SCN2A gain-of-function epilepsy model.
41. Faculty Opinions recommendation of Antisense oligonucleotides increase Scn1a expression and reduce seizures and SUDEP incidence in a mouse model of Dravet syndrome.
42. Elektroenzephalografie (EEG)
43. A SCN8A variant associated with severe early onset epilepsy and developmental delay: Loss- or gain-of-function?
44. Klinisches Ansprechen mit ML vorhersagen
45. Do all patients in the epilepsy monitoring unit experience the same level of comfort? A quantitative exploratory secondary analysis
46. Hyperexcitable interneurons trigger cortical spreading depression in an Scn1a migraine model
47. Frame-based and robot-assisted insular stereo-electroencephalography via an anterior or posterior oblique approach
48. Dravet Variant SCN1AA1783V Impairs Interneuron Firing Predominantly by Altered Channel Activation
49. Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy
50. Optically pumped magnetometers reveal fasciculations non-invasively
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