70 results on '"Lerche, Holger"'
Search Results
2. Spectrum of GABAA receptor variants in epilepsy
3. Spectrum of GABAA receptor variants in epilepsy
4. Clinical spectrum of STX1B-related epileptic disorders
5. Gain‐of‐function HCN2 variants in genetic epilepsy
6. Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients
7. Frequent genes in rare diseases: panel‐based next generation sequencing to disclose causal mutations in hereditary neuropathies
8. Dementia with Lewy bodies: cerebrospinal fluid suppresses neuronal network activity
9. Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features
10. Alterations in the α2δ ligand, thrombospondin‐1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies
11. Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery
12. Comparative effectiveness of antiepileptic drugs in patients with mesial temporal lobe epilepsy with hippocampal sclerosis
13. Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies
14. Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies
15. Reply
16. Mutations in GABRB3: From febrile seizures to epileptic encephalopathies
17. 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy
18. Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation
19. Long-term adjunctive lacosamide treatment in patients with partial-onset seizures
20. Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia
21. Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy
22. Impact of Genetic Polymorphisms of ABCB1 (MDR1, P-Glycoprotein) on Drug Disposition and Potential Clinical Implications: Update of the Literature
23. Multimodal effective connectivity analysis reveals seizure focus and propagation in musicogenic epilepsy
24. Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes
25. CHD2 variants are a risk factor for photosensitivity in epilepsy
26. Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly
27. New hope for the treatment of epilepsy
28. Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy
29. Idiopathic-generalized epilepsy shows profound white matter diffusion—tensor imaging alterations
30. Reduced dendritic arborization and hyperexcitability of pyramidal neurons in a Scn1b-based model of Dravet syndrome
31. DEPDC5 mutations in genetic focal epilepsies of childhood
32. Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy
33. Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A
34. An SCN2A mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na+ current
35. Proposal for a “phase II” multicenter trial model for preclinical new antiepilepsy therapy development
36. Nonlinear Correlations Impair Quantification of Episodic Memory by Mesial Temporal BOLD Activity
37. Ion channels in genetic and acquired forms of epilepsy
38. Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy
39. Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy
40. Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32
41. The LaLiMo Trial: lamotrigine compared with levetiracetam in the initial 26 weeks of monotherapy for focal and generalised epilepsy—an open-label, prospective, randomised controlled multicenter study
42. Paroxysmal exercise-induced dyskinesia of the hands
43. PRRT2 Mutations are the major cause of benign familial infantile seizures
44. Targeted next generation sequencing as a diagnostic tool in epileptic disorders
45. FIRES and NORSE are distinct entities
46. Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies
47. Temperature and pharmacological rescue of a folding-defective, dominantl-negative KV7.2 mutation associated with neonatal seizures
48. A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy
49. Axon initial segment dysfunction in a mouse model of genetic epilepsy with febrile seizures plus
50. Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy
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