1,533 results on '"Lerche, Holger"'
Search Results
52. Predicting functional effects of ion channel variants using new phenotypic machine learning methods
53. Generation of an induced pluripotent stem cell (iPSC) line from a patient with GEFS+ carrying a STX1B (p.Lys45delinsArgMetCysIleGlu and p.Leu46Met) mutation
54. KCNA1 gain‐of‐function epileptic encephalopathy treated with 4‐aminopyridine
55. Real‐world data on cannabidiol treatment of various epilepsy subtypes: A retrospective, multicenter study
56. Gentherapien für Epilepsie: Klinische Studien sind auf dem Weg
57. Shaping the future of European epilepsy research: Final meeting report from EPICLUSTER
58. Spectrum of GABAA receptor variants in epilepsy
59. Clinical spectrum of STX1B-related epileptic disorders
60. ILAE Genetics Literacy series: Progressive myoclonus epilepsies
61. In vitro neuronal network activity as a new functional diagnostic system to detect effects of Cerebrospinal fluid from autoimmune encephalitis patients
62. 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
63. In vitro effects of eslicarbazepine (S‐licarbazepine) as a potential precision therapy on SCN8A variants causing neuropsychiatric disorders
64. Optically pumped magnetometers detect altered maximal muscle activity in neuromuscular disease
65. Faculty Opinions recommendation of DNA methylation-based classification of malformations of cortical development in the human brain.
66. Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
67. Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies
68. Thalamic transitory ischemic attacks presenting as Jacksonian sensory march
69. The role of common genetic variation in presumed monogenic epilepsies
70. Learning with phenotypic similarity improves the prediction of functional effects of missense variants in voltage-gated sodium channels
71. Linking neuronal and hemodynamic network signatures in the resting human brain
72. Author Reply to Peer Reviews of Direct fluorescent labeling of NF186 and NaV1.6 in living primary neurons using bioorthogonal click chemistry
73. Predicting the functional effects of voltage-gated potassium channel missense variants with multi-task learning
74. The role of common genetic variation in presumed monogenic epilepsies
75. Genetic Animal Models of Epileptic Seizures
76. Gain‐of‐function HCN2 variants in genetic epilepsy
77. Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients
78. Personalisierte Diagnostik und Therapie in der Neurologie: Chance und Herausforderung
79. Frequent genes in rare diseases: panel‐based next generation sequencing to disclose causal mutations in hereditary neuropathies
80. Dementia with Lewy bodies: cerebrospinal fluid suppresses neuronal network activity
81. Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features
82. Alterations in the α2δ ligand, thrombospondin‐1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies
83. Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery
84. Comparative effectiveness of antiepileptic drugs in patients with mesial temporal lobe epilepsy with hippocampal sclerosis
85. Mutations in plasticity-related-gene-1 (PRG-1) protein contribute to hippocampal seizure susceptibility and modify epileptic phenotype.
86. In vitro effects of eslicarbazepine (S‐licarbazepine) as a potential precision therapy on SCN8A variants causing neuropsychiatric disorders.
87. Incidence and mechanisms of cardiorespiratory arrests in epilepsy monitoring units (MORTEMUS): a retrospective study
88. ILAE Genetic Literacy Series: Self‐limited familial epilepsy syndromes with onset in neonatal age and infancy
89. ILAE Genetic Literacy Series: Postmortem Genetic Testing in Sudden Unexpected Death in Epilepsy
90. Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder
91. Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood
92. Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants
93. Combined electrophysiological and morphological phenotypes in patients with genetic generalized epilepsy and their healthy siblings
94. Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies
95. Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants
96. Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies
97. Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies
98. Reply
99. Mutations in GABRB3: From febrile seizures to epileptic encephalopathies
100. Generalized (Genetic) Epilepsy with Febrile Seizures Plus, Severe Myoclonic Epilepsy of Infancy
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