Balestrini, Simona

Methodology for classification and definition of epilepsy syndromes with list of syndromes: Report of the ILAE Task Force on Nosology and Definitions

Wirrell, E. C., Nabbout, R., Scheffer, I. E., Alsaadi, T., Bogacz, A., French, J. A., Hirsch, E., Jain, S., Kaneko, S., Riney, K., et al. (2022) · Epilepsia

Epilepsy research and treatmentDiet and metabolism studies

Cited by 296

Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum

Guerrini, R., Conti, V., Mantegazza, M., Balestrini, S., Galanopoulou, A. S., & Benfenati, F. (2023) · Physiological Reviews

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 196

Clinical spectrum and genotype–phenotype associations of KCNA2-related encephalopathies

Masnada, S., Hedrich, U. B. S., Gardella, E., Schubert, J., Kaiwar, C., Klee, E. W., Lanpher, B. C., Gavrilova, R. H., Synofzik, M., Bast, T., et al. (2017) · Brain

Epilepsy research and treatmentIon channel regulation and function

Cited by 164

Severe carotid stenosis and impaired cerebral hemodynamics can influence cognitive deterioration

Balestrini, S., Perozzi, C., Altamura, C., Vernieri, F., Luzzi, S., Bartolini, M., Provinciali, L., & Silvestrini, M. (2013) · Neurology

Cerebrovascular and Carotid Artery DiseasesNeurological Disease Mechanisms and Treatments

Cited by 126

TBC1D24 genotype–phenotype correlation: Epilepsies and other neurologic features

Balestrini, S., Milh, M., Castiglioni, C., Lüthy, K., Finelli, M. J., Verstreken, P., Cardon, A., Stražišar, B. G., Holder, J. L., Lesca, G., et al. (2016) · Neurology

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 124

Monogenic Epilepsies: Disease Mechanisms, Clinical Phenotypes, and Targeted Therapies

Guerrini, R., Balestrini, S., Wirrell, E. C., & Walker, M. C. (2021) · Neurology

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 108

Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’ condition

Martins Custodio, H., Clayton, L. M., Bellampalli, R., Pagni, S., Silvennoinen, K., Caswell, R., Genomics England Research Consortium, Ambrose, J. C., Arumugam, P., Bevers, R., et al. (2023) · Brain

Epilepsy research and treatmentGenomics and Rare Diseases

Cited by 62

Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies

Balestrini, S., Chiarello, D., Gogou, M., Silvennoinen, K., Puvirajasinghe, C., Jones, W. D., Reif, P., Klein, K. M., Rosenow, F., Weber, Y. G., et al. (2021) · Journal of Neurology, Neurosurgery & Psychiatry

Epilepsy research and treatmentGenomics and Rare Diseases

Cited by 49

A registry for Dravet syndrome: The Italian experience

Balestrini, S., Doccini, V., Giometto, S., Lucenteforte, E., De Masi, S., Giarola, E., Brambilla, I., Pieroni, F., Perulli, M., Battaglia, D., et al. (2023) · Epilepsia Open

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 21