Federica Rachele Danti

Supervisor: Gaia Novarino
Project: Modeling SCN1A clinical spectrum in a dish: characterization of cortical development and neuronal activity in cerebral organoids


Conference Talks
Subject/TitleConference/PlaceDate
GNAO1 Mutation: a new cause of transmembrane signalling Derangement causing early onset movement disorder.SSIEM Annual Symposium, Rome, Italy09/2016


Conference Poster Presentations
Subject/TitleConference/PlaceDate
Rest tremor as very early presenting symptom of sepiapterin reductase deficiency (SRD) SSIEM Congress, Barcelona 09/2013
Rest tremor as very early presenting symptom of sepiapterin reductase deficiency (SRD) XL Congresso Nazionale LIMPE VII DISMOV-SIN, Rome, Italy10/2013
PTPS central deficit with prenatal onset V Congresso Nazionale Congiunto SIMMESN e SIMGePeD 2013 11/2013
Quality of life in patients with benign epilepsy with centro-temporal Spikes 38 Congresso Nazionale LICE, Genova06/2015
Multimodal approach for detection of epileptogenic visual stimuli in patients with photo pattern sensitivity38 Congresso Nazionale LICE, Genova 201506/2015
Optic neuropathy in an adult PKU patient during long term follow-upSSIEM Congress Lyon 09/2015
Severe Dystonia, Dyschromatosis Symmetrica Hereditaria and Complex IVdeficiency in Aicardi-Gouti??res Syndrome Type 6British Paediatric Neurology Association (BPNA) 42nd AnnualConference, Sheffield 01/2016
GNAO1 encephalopathy: broadening the phenotype and evaluating treatment and outcome5th International Symposium on Paediatric Movement Disorders, Barcelona02/2017


Courses and Enabling Skills Seminars
SubjectDate
Advanced course, Neuroscience School of advanced sudies, Neural Stem Cells: Development and Brain Repair, Coordinator: Elena Cattaneo, Cortona (Italy)05/2017


Publications in Peer Reviewed Journals
TitleJournal/VolumeDate
The genetics of monogenic idiopathic epilepsies and epileptic encephalopathiesSeizure 21(1):3-1109/2011
Neonatal asphyxia: Neurologic outcomeMinerva pediatrica 65(4):399-41009/2013
GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.Neurol Genet. 2017 Mar 21;3(2):e143. doi: 10.1212/NXG.0000000000000143. eCollection 2017 Apr.04/2017
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.Neuropediatrics. 2017 Jun;48(3):166-184. doi: 10.1055/s-0037-1601449. Epub 2017 Apr 10.06/2017