Simona Balestrini, MD, PhD, è Professoressa Associata di Neuropsichiatria Infantile presso NEUROFARBA, Università di Firenze, e presso il Dipartimento di Neuroscienze e Genetica Medica dell'Azienda Ospedaliera Universitaria A. Meyer.
Le competenze della Prof.ssa Balestrini si concentrano sulla genetica dell'epilessia, i disturbi neuroevolutivi rari e complessi e la neurofisiologia. La sua ricerca si focalizza sull'utilizzo di strumenti genomici e neurofisiologici per comprendere le cause, il decorso e la risposta ai trattamenti dell'epilessia, con l'obiettivo di promuovere terapie sempre più personalizzate. Ha contribuito significativamente allo studio di condizioni neurologiche rare e complesse, comprese le ricerche sulle correlazioni genotipo-fenotipo, sulla neuroimaging e sui biomarcatori nelle malattie neurologiche rare.
Ha conseguito la Laurea in Medicina e Chirurgia e successivamente ha completato la specializzazione in Neurologia presso l'Università Politecnica delle Marche, ad Ancona, Italia, dove ha ottenuto anche il Dottorato di Ricerca in Salute Umana nel 2017. Ha ricevuto numerosi premi per il suo lavoro e ha pubblicato ampiamente nei campi dell'epilessia e delle neuroscienze. Ha proseguito la sua formazione e ha svolto attività clinica e di ricerca presso l'University College of London (UCL) fino al 2021. Attualmente coordina progetti di ricerca internazionali sulle sindromi epilettiche rare e sugli approcci traslazionali, tra cui l'utilizzo della stimolazione magnetica transcranica (TMS).
PERSONAL INFORMATION
Simona Balestrini
Children’s Hospital Meyer IRCSS - University of Florence, viale Pieraccini 24, 50139, Florence, Italy
Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology,
33 Queen Square, WC1N 3BG, London, UK
+39 0555662719 +44 07918508114
simona.balestrini@meyer.it; s.balestrini@ucl.ac.uk
Sex F| Date of birth24/11/1983| NationalityItalian and British
University
☐ Full professor
☒ Associate Professor
☐ Researcher and Technologist of IV, V, VI and VII level / Technical collaborator
WORK EXPERIENCE
From 1.2.2021 Associate Professor of Child Neurology and Psychiatry, Neuroscience Department, Children’s Hospital A. Meyer- University of Florence
From 6.1.2020 Senior Clinical Research Fellow in the Department of Clinical and Experimental Epilepsy at the UCL Queen Square Institute of Neurology. Main topics of research: genetics of epilepsies, next generation sequencing, genotype-phenotype correlation, transcranial magnetic stimulation.
From 1.12.2017 Consultant Neurologist at UCLH NHS Foundation Trust, based at two sites: National Hospital for Neurology and Neurosurgery and Chalfont Centre for Epilepsy.
From 1.11.2018 to 5.1.2020 Honorary Clinical Associate Professor in the Department of Clinical and Experimental Epilepsy at the UCL Queen Square Institute of Neurology.
From 1.7 to 31.12.2016 Locum Consultant Neurologist – Special Interest in Epilepsy, at University College London Hospital (UCLH) NHS Foundation Trust
From 1.8.2014 to 30.11.2017 Clinical Research Associate in the Department of Clinical and Experimental Epilepsy, UCL
From 18.10.2012 GMC (General Medical Council) full registration with a licence to practice in UK (GMC registration number: 7347547). Specialist registration (Neurology) from 17 May 2016. Revalidation in 2019.
EDUCATION AND TRAINING
From 1.11.2013 to 1.3.2017PhD awarded from Polytechnic University of Marche (Ancona, Italy) in March 2017. Main topic of research:genetics of drug-resistant epilepsy. Final thesis on ‘Biomarkers of Sudden Unexpected Death in Epilepsy (SUDEP)’.
From 30.6.2009 to 4.7.2014 Completion of Medical Residency in Neurology at Polytechnic University of Marche (Ancona, Italy), with thesis on ‘Electrical Stimulations of Parietal Lobe: a Stereo-EEG Study in Patients with Drug-Resistant Focal Epilepsy” (50/50 with honour).
From April 2011 to May 2012 Specialization Course in ‘Statistics applied to clinical questions’, Modena and Reggio Emilia University (176 hours).
On 24.7.2008 Degree in Medicine and Surgery at Polytechnic University of Marche with thesis on "Progression of Carotid Atherosclerosis and Zinc Homeostasis" (110/110 with honour). In 2002 Scientific high school diploma (final vote 100/100
PERSONAL SKILLS
Mother tongue
Italian
Other language
English
Reading skills Excellent
Writing skills Excellent
Verbal skills Excellent
Job-related skills
From 2022 part of Faculty for the 4EU+ Elective Course on the Pathogenesis of Epilepsy
From 2021 co-leader of the Solve-RD Data Interpretation Task Force
From 2021 Chair of the ILAE-Young Epilepsy Section-Italian chapter;
From 2021 Member of the ILAE Task Force on Nosology and Definitions
From 2018 F1000 Associate Faculty Member for Neurological Disorders
From 2016 Muir Maxwell Trust Research Fellow at Epilepsy Society.
2018 Prize for best scientific contribution LICE meeting on the impact of precision
medicine in genetic epilepsies; 2017 Prize 'Giancarlo Muscas';2016 two awards by Italian Neurological
Society (SIN) for best publications on stroke and epilepsy; 2015, prize for best scientific contribution
LICE meeting on cortical stimulations of the parietal lobe; 2014, prize for best scientific contribution
LICE meeting on retinal nerve fibre layer thickness as a possible biomarker of drug resistance in
epilepsy; 2014 SIN award for best publication on cerebrovascular disease
Other skills
Supervisor of postdoc researchers Sasha D’Ambrosio and Diego-Jimenez-Jimenez, with research project onTMS in genetic epilepsies.
From 2021 ongoing Subsidiary supervisor of PhD student Dr Angeliki Vakrinou, with research
project on clinical genomic risk profiling in epilepsy.
From 2019 ongoing Subsidiary supervisor of PhD student Dr Katri Silvennoinen, with research
project on TMS in Dravet Syndrome.
From 2018 ongoing Subsidiary supervisor of PhD student Dr Sara Zagaglia, with research
project on TMS in epilepsies caused my mTOR pathway gene mutations.
From 2020 primary supervisor of 2-3 MsC students each year at UCL
2019 ILAE Leadership Programme.
ADDITIONAL INFORMATION
Projects
TMS-EEG in genetic epilepsies. February 2019-February 2022.National Brain Appeal (NBA), £260,000 (co-PI)
Use of TMS to understand in-vivo the functional pathophysiology of Dravet Syndrome and predict treatment response. January 2022-January 2024, Dravet Syndrome Foundation (DSF), $150.000 (PI)
Prediction of treatment response in epilepsy by Transcranial Magnetic Stimulation coupled with EEG (TMS-EEG),October 2022-October 2023, Fast Track award (NIHR University College London Hospitals Biomedical Research Centre and UCLH Charity, £39,160.48 (PI)
Use of Transcranial Magnetic Stimulation (TMS) as a surrogate of Pathophysiology in genetic epilepsies- TMSpath, March 2023-March 2026, Italian Ministry of Health, euro 450.000 (PI)
Precision medicine in Dravet syndrome: from a national registry to neuronal modelling based on individual genome data, March 2023-March 2024, euro 1.000.000 (co-PI)
Publication Track record 102 publications, h-index 25, 2083 citations (Scopus)
Epilessie rare e complesse
Genomica
Neurofisiologia
Stimolazione Magnetica Transcranica
Legenda
Simona Balestrini, MD, PhD, is an Associate Professor of Child Neurology and Psychiatry at NEUROFARBA, University of Florence, and at the Department of Neurosciences and Medical Genetics of the A. Meyer University Hospital.
Professor Balestrini's expertise focuses on epilepsy genetics, rare and complex neurodevelopmental disorders, and neurophysiology. Her research is centered on the use of genomic and neurophysiological tools to understand the causes, progression, and treatment responses of epilepsy, with the aim of promoting increasingly personalized therapies. She has made significant contributions to the study of rare and complex neurological conditions, including research on genotype-phenotype correlations, neuroimaging, and biomarkers for rare neurological diseases.
She obtained her Degree in Medicine and Surgery and later completed her specialization in Neurology at the Polytechnic University of Marche, in Ancona, Italy, where she also earned a PhD in Human Health in 2017. She has received numerous awards for her work and has extensively published in the fields of epilepsy and neuroscience. She continued her training and carried out clinical and research activities at University College London (UCL) until 2021. She currently leads international research projects on rare epilepsy syndromes and translational approaches, including the use of transcranial magnetic stimulation (TMS).
From 1.02.2021 Associate Professor of Child Neurology and Psychiatry, Department of Neuroscience and Medical Genetics, Meyer
Children’s Hospital IRCSS, University of Florence
From 6.1.2020 to 31.12.2023 Senior Clinical Research Fellow in the Department of Clinical and Experimental Epilepsy at the UCL Queen Square Institute of Neurology
From 1.7.2016. to 31.12.2016 Locum Consultant Neurologist – Special Interest in Epilepsy, at University College London Hospital (UCLH) NHS Foundation Trust
From 1.8.2014. to 30.11.2017 Clinical Research Associate in the Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology
From 18.10.2012 GMC (General Medical Council) full registration with a licence to practice in UK (GMC registration number:7347547). Specialist registration (Neurology) from 17 May 2016. Last revalidation in 2024.
From October 2021 to June 2022 Advanced Course on Paediatric Clinical Trials and Paediatric Drug Development, conect4children (c4c)
From 1.11.2013 to 1.3.2017 PhD awarded from Polytechnic University of Marche (Ancona, Italy) in March 2017. Main topic of research: genetics of drug-resistant epilepsy. Final thesis on ‘Biomarkers of Sudden Unexpected Death in Epilepsy (SUDEP)’
From 30.6.2009 to 4.7.2014 Completion of Medical Residency in Neurology at Polytechnic University of Marche (Ancona, Italy), with thesis on
‘Electrical Stimulations of Parietal Lobe: a Stereo-EEG Study in Patients with Drug-Resistant Focal Epilepsy” (50/50
With honour)
From April 2011 to May 2012 Specialization Course in ‘Statistics applied to clinical questions’, Modena and Reggio Emilia University (176 hours)
On 24.7.2008 Degree in Medicine and Surgery at Polytechnic University of Marche with thesis on "Progression of Carotid
Atherosclerosis and Zinc Homeostasis" (110/110 with honour).
In 2002 Scientific high school diploma (final vote 100/100)
[
From 2024 member of the Editorial Board of Epilepsia
From 2024 Member of Scientific Committee of GRI-Italia
From 2024 Member of Scientific Committee of STXBP1 Italia ApS
From 2024 Member of Scientific Committee of Unione Italiana Nexmif
From 2024 Member of Scientific Committee of the Italian Advocacy Group for COL4A1-A2- related disease
From 2024 Member of Scientific Committee of Residras registry (SCN1A and PCDH-19-related epilepsies)
From 2023 Member of Ring20 Scientific Advisory Board
From 2021 Associate Editor of the EAN e-Learning Editorial Board
From 2021 lead of the Solve-RD Data Interpretation Task Force
2021-2024 Chair of the ILAE-Young Epilepsy Section-Italian chapter
2021-2024 Member of the ILAE Task Force on Nosology and Definitions
2018-2021 F1000 Associate Faculty Member for Neurological Disorders
2016-2021 Muir Maxwell Trust Research Fellow at Epilepsy Society
medicine in genetic epilepsies; 2017 Prize 'Giancarlo Muscas'; 2016 two awards by Italian Neurological Society (SIN) for best publications on stroke and epilepsy; 2015, prize for best scientific contribution on cortical stimulations of the parietal lobe (ILAE Italian chapter meeting); 2014, prize for best scientific contribution on retinal nerve fibre layer thickness as a possible biomarker of drug resistance in epilepsy (ILAE Italian chapter meeting); 2014 SIN award for best publication on cerebrovascular disease.
2023-2024, supervisor of Ms Clementine Rudd, iBSC Neuroscience programme
From 2021 supervisor of 2-3 undergraduate medical students each year
From 2022 ongoing Subsidiary supervisor of PhD student Ms Charlotte Ravenscroft, with research
project on factors influencing TMS-evoked responses in epilepsy
From 2022 ongoing Subsidiary supervisor of PhD student Dr Angeliki Vakrinou, with research
project on clinical use of Whole Genome Sequencing in epilepsy
From 2019 ongoing supervisor of postdoc researchers Sasha D’Ambrosio and Diego-Jimenez-Jimenez, with research project on TMS in genetic epilepsies.
2019 ILAE Leadership Programme
TAP-GRIN. International multicentre project funded by the Joint Transnational Call 2024 on "Identification or Validation of Targets for Personalised Medicine Approaches (PMTargets)" within the framework of EP PerMed. The project focuses on Tailored Approaches targeting Pathophysiology in GRIN-related neurodevelopmental disorders. 2024-2028. Total budget 1.928.082 euros (PI)
Use of Transcranial Magnetic Stimulation (TMS) as a surrogate of Pathophysiology in genetic epilepsies- TMSpath, April 2023-March 2026, Italian Ministry of Health, euro 450.000 (PI)
Precision medicine in Dravet syndrome: from a national registry to neuronal modelling based on individual genome data, May 2023- April 2025, euro 1.000.000 (co-PI)
Prediction of treatment response in epilepsy by Transcranial Magnetic Stimulation coupled with EEG (TMS-EEG), October 2022-October 2023, Fast Track award (NIHR University College London Hospitals Biomedical Research Centre and UCLH Charity, £39,160.48 (PI)
Publication Track record
117 publications, h-index 31, 2868 citations (Scopus)
Relevant publications
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy. Mei D, Balestrini S, Parrini E, et al. J Med Genet. 2024. doi: 10.1136/jmg-2024-110328.
TBC1D24-Related Disorders. 2015 Feb 26 [updated 2024 Oct 24]. Balestrini S, Campeau PM, Mei D, Guerrini R, Sisodiya S. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
Morphometric network-based abnormalities correlate with psychiatric comorbidities and gene expression in PCDH19-related developmental and epileptic encephalopathy. Lenge M, Balestrini S, Napolitano A, et al.Transl Psychiatry. 2024 Jan 18;14(1):35. doi: 10.1038/s41398-024-02753-x.
Steps to Improve Precision Medicine in Epilepsy. Balestrini S, Mei D, Sisodiya SM, Guerrini R. Mol Diagn Ther. 2023 Nov;27(6):661-672. doi: 10.1007/s40291-023-00676-9.
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration. Vetro A, Pelorosso C, Balestrini S, et al.
Am J Hum Genet. 2023 Jun 28:S0002-9297(23)00209-4. doi: 10.1016/j.ajhg.2023.06.008.
Risk-conferring HLA variants in an epilepsy cohort: benefits of multifaceted use of whole genome sequencing in clinical practice. Vakrinou A, …Balestrini S, Sisodiya SM. J Neurol Neurosurg Psychiatry. 2023 Jun 26:jnnp-2023-331419. doi: 10.1136/jnnp-2023-331419.
Morphometry and network-based atrophy patterns in SCN1A-related Dravet syndrome. Lenge M, Balestrini S, Mei D, et al. Cereb Cortex. 2023 Jun 21:bhad224. doi: 10.1093/cercor/bhad224.
Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition. Martins Custodio H,…, Balestrini S, Mills JD, Sisodiya SM. Brain. 2023 Apr 3:awad111. doi:10.1093/brain/awad111.
A registry for Dravet syndrome: The Italian experience. Balestrini S, et al. Epilepsia Open. 2023 Mar 20. doi: 10.1002/epi4.12730
Transcranial magnetic stimulation-evoked electroencephalography responses as biomarkers for epilepsy: A review of study design and outcomes. Gefferie SR,…., Balestrini S, Thijs RD. Hum Brain Mapp. 2023 Jun 1;44(8):3446-3460.
Focal cortical dysplasia: a practical guide for neurologists. Balestrini S, et al. Pract Neurol. 2023 Feb 23:practneurol-2022-003404.
Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum. Guerrini R,….Balestrini S, Galanopoulou AS, Benfenati F. Physiol Rev. 2023 Jan 1;103(1):433-513.
Alternating hemiplegia of childhood: An electroclinical study of sleep and hemiplegia. Poole J,…..Balestrini S, Vivekananda U. PLoS One. 2022 Sep 30;17(9):e0268720.
Risk factors and outcome of hyperammonaemia in people with epilepsy. Vakrinou A,…. Balestrini S. J Neurol. 2022 Jul 30. doi: 10.1007/s00415-022-11304-7.
Physiological symmetry of transcranial magnetic stimulation-evoked EEG spectral features.
D'Ambrosio S, …., Balestrini S. Hum Brain Mapp. 2022 Jul 21. doi: 10.1002/hbm.26022
The impact of Transcranial Magnetic Stimulation (TMS) on seizure course in people with and without epilepsy. Pang S,…….., Balestrini S. Clin Neurophysiol Pract. 2022 Jun 13;7:174-182
Efficacy and Safety of Long-Term Treatment with Stiripentol in Children and Adults with Drug-Resistant Epilepsies: A Retrospective Cohort Study of 196 Patients. Balestrini S, Doccini V, Boncristiano A, et al. Drugs Real World Outcomes. 2022 Sep;9(3):451-461.
Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy. De Maria B, Balestrini S, et al. Am J Med Genet A. 2022 Feb;188(2):522-533.
Non-Stationary Outcome of Alternating Hemiplegia of Childhood into Adulthood. Perulli M, Poole J, Di Lazzaro G, …….Balestrini S.Mov Disord Clin Pract. 2021 Dec 29;9(2):206-211
Postictal Psychosis in Epilepsy: A Clinicogenetic Study. Braatz V, …. Balestrini S, Sisodiya SM.
Ann Neurol. 2021 Sep;90(3):464-476.
Monogenic Epilepsies: Disease Mechanisms, Clinical Phenotypes, and Targeted Therapies.
Guerrini R, Balestrini S, Wirrell EC, Walker MC. Neurology. 2021 Oct 26;97(17):817-831.
Rare and Complex Epilepsies from Childhood to Adulthood: Requirements for Separate Management or Scope for a Lifespan Holistic Approach? Balestrini S, Guerrini R, Sisodiya SM. Curr Neurol Neurosci Rep. 2021 Nov 24;21(12):65.
Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies. Balestrini S,
Chiarello D, Gogou M, et al. J Neurol Neurosurg Psychiatry. 2021 Apr 26:jnnp-2020-325932.
Increased facial asymmetry in focal epilepsies associated with unilateral lesions. Balestrini S, et al.
Brain Commun. 2021 Apr 19;3(2):fcab068.
Intracerebral electrical stimulations of the temporal lobe: A stereoelectroencephalography study.
Mariani V, Balestrini S, et al. Eur J Neurosci. 2021 Aug;54(4):5368-5383
Clinical outcomes of SARS-CoV-2 pandemic in long-term care facilities for people with epilepsy:
observational study Balestrini S, Koepp MJ, Gandhi S, et al. Epilepsy Behav. 2020 Nov 5:107602.
Cardiac phenotype in ATP1A3-related syndromes: A multicentre cohort Study. Balestrini S, Mikati
MA, Garcia-Roves RA, et al. Neurology. 2020 95(21):e2866- e2879.
Transcranial magnetic stimulation as a tool to understand genetic conditions associated with epilepsy.
Silvennoinen K, Balestrini S, Rothwell JC, Sisodiya SM. Epilepsia. 2020 Aug 12.
Muscle and brain sodium channelopathies: genetic causes, clinical phenotypes, and management
Transcranial magnetic stimulation as a biomarker of treatment response in children with Epilepsy.
Balestrini S, Sander JW. Dev Med Child Neurol. 2020l;62(7):770
Cerebellar, limbic, and midbrain volume alterations in sudden unexpected death in epilepsy. Allen LA,
Vos SB, Kumar R, Ogren JA, Harper RK, Winston GP, Balestrini S, et al. Epilepsia. 2019
Apr;60(4):718-729.
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features. Balestrini S,
Milh M, Castiglioni C, et al Neurology. 2016 Jul 5;87(1):77-85.
Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in
Multimodal responses induced by cortical stimulation of the parietal lobe: a stereo
electroencephalography study. Balestrini S, Francione S, Mai R, et al. Brain. 2015 Sep;2596-607
22/12/2024
Rare and Complex Epilepsies
Genomics
Neurophysiology
Transcranial Magnetic Stimulation (TMS)
