210 results on '"Ragona, Francesca"'
Search Results
2. Novel lissencephaly-associated NDEL1 variant reveals distinct roles of NDE1 and NDEL1 in nucleokinesis and human cortical malformations
3. GLUT1-DS Italian registry: past, present, and future: a useful tool for rare disorders
4. The effect of executive function on health related quality of life in children with self-limited epilepsy with centrotemporal spikes
5. An Italian consensus on the management of Lennox-Gastaut syndrome
6. Next‐generation sequencing in pediatric‐onset epilepsies: Analysis with target panels and personalized therapeutic approach.
7. Different circuitry dysfunction in drug-naive patients with juvenile myoclonic epilepsy and juvenile absence epilepsy
8. Early Immunotherapy and Longer Corticosteroid Treatment Are Associated With Lower Risk of Relapsing Disease Course in Pediatric MOGAD
9. Multicenter prospective longitudinal study in 34 patients with Dravet syndrome: Neuropsychological development in the first six years of life
10. Unraveling unmet needs in ketogenic dietary services: An ERN EpiCARE survey.
11. Gait abnormalities in people with Dravet syndrome: A cross-sectional multi-center study
12. HCN ion channels and accessory proteins in epilepsy: genetic analysis of a large cohort of patients and review of the literature
13. Case report: Marked electroclinical improvement by fluoxetine treatment in a patient with KCNT1-related drug-resistant focal epilepsy.
14. Network characteristics in benign epilepsy with centro-temporal spikes patients indicating defective connectivity during spindle sleep: A partial directed coherence study of EEG signals
15. Screening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency syndrome: identification of novel variants and associated phenotypes
16. Epileptic spikes in Rasmussen’s encephalitis: Migratory pattern and short-term evolution. A MEG study
17. Movement-activated cortical myoclonus in Dravet syndrome
18. A novel de novo HCN2 loss‐of‐function variant causing developmental and epileptic encephalopathy treated with a ketogenic diet.
19. Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study
20. Kv7.3 Compound Heterozygous Variants in Early Onset Encephalopathy Reveal Additive Contribution of C-Terminal Residues to PIP2-Dependent K+ Channel Gating
21. CDKL5 deficiency disorder: progressive brain atrophy may be part of the syndrome.
22. Sporadic and familial glut1ds Italian patients: A wide clinical variability
23. Focal seizures versus epileptic spasms in children with focal cortical dysplasia and epilepsy onset in the first year
24. WISC‐IV intellectual profiles in Italian children with self‐limited epilepsy with centrotemporal spikes
25. Hemispherotomy in Rasmussen encephalitis: Long-term outcome in an Italian series of 16 patients
26. Ketogenic dietary therapies in epilepsy: recommendations of the Italian League against Epilepsy Dietary Therapy Study Group.
27. A novel KCNC1 gain‐of‐function variant causing developmental and epileptic encephalopathy: "Precision medicine" approach with fluoxetine.
28. A registry for Dravet syndrome: The Italian experience.
29. Long‐term effectiveness of add‐on perampanel in patients with Lennox–Gastaut syndrome: A multicenter retrospective study.
30. Cognitive and neuropsychological evolution in children with anti-NMDAR encephalitis
31. Vagus nerve stimulation for drug-resistant Epilepsia Partialis Continua: Report of four cases
32. Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations
33. Cannabidiol use in patients with Dravet syndrome and Lennox-Gastaut syndrome: experts' opinions using a nominal group technique (NGT) approach.
34. Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants
35. Hemispherotomy and functional hemispherectomy: Indications and outcome
36. Severe epilepsy in CNTNAP2-related Pitt-Hopkins-like syndrome successfully treated with stiripentol
37. Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype
38. Heterozygous variants in KCNC2 cause a broad spectrum of epilepsy phenotypes associated with characteristic functional alterations 2021.05.21.21257099
39. SCN8A splicing mutation causing skipping of the exon 15 associated with intellectual disability and cortical myoclonus
40. 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy
41. Refractory Absence Epilepsy and Glut1 Deficiency Syndrome: A New Case Report and Literature Review
42. VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies
43. Cardiac phenotype in ATP1A3-related syndromes
44. Cardiac phenotype in ATP1A3-related syndromes A multicenter cohort study
45. Quantitative Characterization of Motor Control during Gait in Dravet Syndrome Using Wearable Sensors: A Preliminary Study.
46. An Italian multicentre study of perampanel in progressive myoclonus epilepsies
47. Clinical course and variability of non-Rasmussen, nonstroke motor and sensory epilepsia partialis continua: A European survey and analysis of 65 cases
48. Cognitive development in children with Dravet syndrome
49. Cognitive development in Dravet syndrome: A retrospective, multicenter study of 26 patients
50. Progressive myoclonus epilepsy caused by a gain-of-function KCNA2 mutation
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