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210 results on '"Ragona, Francesca"'

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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.

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.

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.

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.

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.

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

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

40. 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

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

49. Cognitive development in Dravet syndrome: A retrospective, multicenter study of 26 patients

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