89 results on '"Lerche, Holger"'
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2. KCNA1 gain‐of‐function epileptic encephalopathy treated with 4‐aminopyridine
3. Real‐world data on cannabidiol treatment of various epilepsy subtypes: A retrospective, multicenter study
4. In vitro effects of eslicarbazepine (S‐licarbazepine) as a potential precision therapy on SCN8A variants causing neuropsychiatric disorders
5. Current practice in diagnostic genetic testing of the epilepsies
6. Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress
7. Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder
8. Ictal Electroencephalographic Characteristics of Nodding Syndrome: A Comparative Case‐Series from South Sudan, Tanzania, and Uganda
9. Combined electrophysiological and morphological phenotypes in patients with genetic generalized epilepsy and their healthy siblings
10. Do all patients in the epilepsy monitoring unit experience the same level of comfort? A quantitative exploratory secondary analysis
11. An identical‐by‐descent novel splice‐donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families
12. Brivaracetam substituting other antiepileptic treatments: Results of a retrospective study in German epilepsy centers
13. Biological concepts in human sodium channel epilepsies and their relevance in clinical practice
14. SCN 2Achannelopathies: Mechanisms and models
15. Diagnostic implications of genetic copy number variation in epilepsy plus
16. KCNC1-related disorders: New de novo variants expand the phenotypic spectrum
17. KCNC1 ‐related disorders: new de novo variants expand the phenotypic spectrum
18. KCNC1 ‐related disorders: new de novo variants expand the phenotypic spectrum
19. No evidence for a BRD 2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy
20. Unravelling the brain networks driving spike‐wave discharges in genetic generalized epilepsy—common patterns and individual differences
21. Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies
22. Functional variants inHCN4andCACNA1Hmay contribute to genetic generalized epilepsy
23. Myoclonus epilepsy and ataxia due toKCNC1mutation: Analysis of 20 cases and K+channel properties
24. Reply
25. A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia
26. Reply
27. Benign infantile seizures and paroxysmal dyskinesia caused by anSCN8Amutation
28. Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy
29. DEPDC5mutations in genetic focal epilepsies of childhood
30. Dominant‐negative effects of KCNQ2 mutations are associated with epileptic encephalopathy
31. Idiopathic-generalized epilepsy shows profound white matter diffusion-tensor imaging alterations
32. Proposal for a “phase II” multicenter trial model for preclinical new antiepilepsy therapy development
33. AnSCN2Amutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na+current
34. Ion channels in genetic and acquired forms of epilepsy
35. Paroxysmal exercise‐induced dyskinesia of the hands
36. FIRES and NORSE are distinct entities
37. Targeted next generation sequencing as a diagnostic tool in epileptic disorders
38. Chorein‐sensitive polymerization of cortical actin and suicidal cell death in chorea‐acanthocytosis
39. A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy
40. Genetic testing in the epilepsies-Report of the ILAE Genetics Commission
41. Evaluation of cognition, structural, and functional MRI in juvenile myoclonic epilepsy
42. Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1
43. GLUT1 gene mutations cause sporadic paroxysmal exercise‐induced dyskinesias
44. A BFIS-like syndrome with late onset and febrile seizures: Suggestive linkage to chromosome 16p11.2-16q12.1
45. Genetic mechanisms in idiopathic epilepsies
46. Nervous system KV7 disorders: breakdown of a subthreshold brake
47. Neutralization of a negative charge in the S1–S2 region of the KV7.2 (KCNQ2) channel affects voltage‐dependent activation in neonatal epilepsy
48. Genetik und Krankheitsmechanismen erblicher Epilepsien
49. Exploration of the Genetic Architecture of Idiopathic Generalized Epilepsies
50. Mesodermal cell types induce neurogenesis from adult human hippocampal progenitor cells
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