396 results on '"Lerche, Holger"'
Search Results
2. Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect
3. Complex biophysical changes and reduced neuronal firing in an SCN8A variant associated with developmental delay and epilepsy
4. Retigabine and gabapentin restore channel function and neuronal firing in a cellular model of an epilepsy-associated dominant-negative KCNQ5 variant
5. Long-term clinical course and treatment outcomes of individuals with Nodding Syndrome
6. Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia
7. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
8. Sponge EEG is equivalent regarding signal quality, but faster than routine EEG
9. Multi-spectral diffusion MRI mega-analysis in genetic generalized epilepsy: Relation to outcomes
10. A SCN8A variant associated with severe early onset epilepsy and developmental delay: Loss- or gain-of-function?
11. Assessing comfort in the epilepsy monitoring unit: Psychometric testing of an instrument
12. Desynchronization of temporal lobe theta-band activity during effective anterior thalamus deep brain stimulation in epilepsy
13. Differential excitatory vs inhibitory SCN expression at single cell level regulates brain sodium channel function in neurodevelopmental disorders
14. Genetic potassium channel-associated epilepsies: Clinical review of the Kv family
15. Novel treatment approaches and pediatric research networks in status epilepticus
16. Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy
17. Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study
18. Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy
19. Strength and muscle structure preserved during long-term therapy in a patient with hypokalemic periodic paralysis (Cav1.1-R1239G)
20. Motor cortex excitability in seizure-free STX1B mutation carriers with a history of epilepsy and febrile seizures
21. Hyperexcitable interneurons trigger cortical spreading depression in an Scn1a migraine model
22. Homozygous mutation in TXNRD1 is associated with genetic generalized epilepsy
23. Voltage‐gated calcium channels in genetic epilepsies.
24. GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response.
25. Voltage-Sensor Sodium Channel Mutations Cause Hypokalemic Periodic Paralysis Type 2 by Enhanced Inactivation and Reduced Current
26. In vitro neuronal network activity as a new functional diagnostic system to detect effects of Cerebrospinal fluid from autoimmune encephalitis patients
27. Efficacy and safety of ezogabine/retigabine as adjunctive therapy to specified single antiepileptic medications in an open-label study of adults with partial-onset seizures
28. Thalamic transitory ischemic attacks presenting as Jacksonian sensory march
29. Gain‐of‐function HCN2 variants in genetic epilepsy
30. Frequent genes in rare diseases: panel‐based next generation sequencing to disclose causal mutations in hereditary neuropathies
31. Dementia with Lewy bodies: cerebrospinal fluid suppresses neuronal network activity
32. Alterations in the α2δ ligand, thrombospondin‐1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies
33. Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery
34. Comparative effectiveness of antiepileptic drugs in patients with mesial temporal lobe epilepsy with hippocampal sclerosis
35. Mutations in plasticity-related-gene-1 (PRG-1) protein contribute to hippocampal seizure susceptibility and modify epileptic phenotype.
36. Direct fluorescent labeling of NF186 and NaV1.6 in living primary neurons using bioorthogonal click chemistry.
37. Real‐world data on cannabidiol treatment of various epilepsy subtypes: A retrospective, multicenter study.
38. In vitro effects of eslicarbazepine (S‐licarbazepine) as a potential precision therapy on SCN8A variants causing neuropsychiatric disorders.
39. KCNA1 gain‐of‐function epileptic encephalopathy treated with 4‐aminopyridine.
40. Incidence and mechanisms of cardiorespiratory arrests in epilepsy monitoring units (MORTEMUS): a retrospective study
41. Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies
42. Mutations in GABRB3: From febrile seizures to epileptic encephalopathies
43. Predicting functional effects of ion channel variants using new phenotypic machine learning methods.
44. Restless legs syndrome in psoriasis: an unexpected comorbidity
45. Differences Between MEG and High-Density EEG Source Localizations Using a Distributed Source Model in Comparison to fMRI
46. Focal epilepsy in Glucose transporter type 1 (Glut1) defects: case reports and a review of literature
47. 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy
48. Antiepileptic drug therapy: Does mechanism of action matter?
49. Long-term adjunctive lacosamide treatment in patients with partial-onset seizures
50. Optically pumped magnetometers detect altered maximal muscle activity in neuromuscular disease.
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