763 results on '"Lerche, Holger"'
Search Results
2. Correction to: Cenobamate: real-world data from a retrospective multicenter study
3. Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect
4. Complex biophysical changes and reduced neuronal firing in an SCN8A variant associated with developmental delay and epilepsy
5. Retigabine and gabapentin restore channel function and neuronal firing in a cellular model of an epilepsy-associated dominant-negative KCNQ5 variant
6. Long-term clinical course and treatment outcomes of individuals with Nodding Syndrome
7. Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia
8. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
9. Sponge EEG is equivalent regarding signal quality, but faster than routine EEG
10. Multi-spectral diffusion MRI mega-analysis in genetic generalized epilepsy: Relation to outcomes
11. A SCN8A variant associated with severe early onset epilepsy and developmental delay: Loss- or gain-of-function?
12. Assessing comfort in the epilepsy monitoring unit: Psychometric testing of an instrument
13. Desynchronization of temporal lobe theta-band activity during effective anterior thalamus deep brain stimulation in epilepsy
14. Differential excitatory vs inhibitory SCN expression at single cell level regulates brain sodium channel function in neurodevelopmental disorders
15. Genetic potassium channel-associated epilepsies: Clinical review of the Kv family
16. Novel treatment approaches and pediatric research networks in status epilepticus
17. Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy
18. Tetraparesis and sensorimotor axonal polyneuropathy due to co-occurrence of Pompe disease and hereditary ATTR amyloidosis
19. Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study
20. Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy
21. Strength and muscle structure preserved during long-term therapy in a patient with hypokalemic periodic paralysis (Cav1.1-R1239G)
22. Motor cortex excitability in seizure-free STX1B mutation carriers with a history of epilepsy and febrile seizures
23. Hyperexcitable interneurons trigger cortical spreading depression in an Scn1a migraine model
24. Homozygous mutation in TXNRD1 is associated with genetic generalized epilepsy
25. Neuro-Sweet syndrome - a rare differential diagnosis in aseptic meningoencephalitis
26. Voltage-Sensor Sodium Channel Mutations Cause Hypokalemic Periodic Paralysis Type 2 by Enhanced Inactivation and Reduced Current
27. Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
28. Development of a rapid functional assay that predicts GLUT1 disease severity
29. Drug-resistant epilepsy — time to target mechanisms
30. Spectrum of GABAA receptor variants in epilepsy
31. Clinical spectrum of STX1B-related epileptic disorders
32. In vitro neuronal network activity as a new functional diagnostic system to detect effects of Cerebrospinal fluid from autoimmune encephalitis patients
33. Voltage‐gated calcium channels in genetic epilepsies.
34. GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response.
35. 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
36. Thalamic transitory ischemic attacks presenting as Jacksonian sensory march
37. Shaping the future of European epilepsy research: Final meeting report from EPICLUSTER
38. Gain‐of‐function HCN2 variants in genetic epilepsy
39. Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients
40. Frequent genes in rare diseases: panel‐based next generation sequencing to disclose causal mutations in hereditary neuropathies
41. Dementia with Lewy bodies: cerebrospinal fluid suppresses neuronal network activity
42. Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features
43. Alterations in the α2δ ligand, thrombospondin‐1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies
44. Direct fluorescent labeling of NF186 and NaV1.6 in living primary neurons using bioorthogonal click chemistry.
45. Mutations in plasticity-related-gene-1 (PRG-1) protein contribute to hippocampal seizure susceptibility and modify epileptic phenotype.
46. Real‐world data on cannabidiol treatment of various epilepsy subtypes: A retrospective, multicenter study.
47. The role of common genetic variation in presumed monogenic epilepsies
48. Incidence and mechanisms of cardiorespiratory arrests in epilepsy monitoring units (MORTEMUS): a retrospective study
49. Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery
50. Comparative effectiveness of antiepileptic drugs in patients with mesial temporal lobe epilepsy with hippocampal sclerosis
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