Guerrini, Renzo

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

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Stamberger, H., Hammer, T. B., Gardella, E., Vlaskamp, D. R. M., Bertelsen, B., Mandelstam, S., de Lange, I., Zhang, J., Myers, C. T., Fenger, C., et al. (2021) · Genetics in Medicine

Genetics and Neurodevelopmental DisordersEpilepsy research and treatment

Cited by 57

Efficacy and safety of Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: A real‐world study

Specchio, N., Pietrafusa, N., Doccini, V., Trivisano, M., Darra, F., Ragona, F., Cossu, A., Spolverato, S., Battaglia, D., Quintiliani, M., et al. (2020) · Epilepsia

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 56

Fenfluramine provides clinically meaningful reduction in frequency of drop seizures in patients with Lennox–Gastaut syndrome: Interim analysis of an open‐label extension study

Knupp, K. G., Scheffer, I. E., Ceulemans, B., Sullivan, J., Nickels, K. C., Lagae, L., Guerrini, R., Zuberi, S. M., Nabbout, R., Riney, K., et al. (2023) · Epilepsia

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 55

Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care

Pirozzi, F., Berkseth, M., Shear, R., Gonzalez, L., Timms, A. E., Sulc, J., Pao, E., Oyama, N., Forzano, F., Conti, V., et al. (2022) · Brain

Fetal and Pediatric Neurological DisordersEpilepsy research and treatment

Cited by 54

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

An examination of the efficacy and safety of fenfluramine in adults, children, and adolescents with Dravet syndrome in a real‐world practice setting: A report from the Fenfluramine European Early Access Program

Guerrini, R., Specchio, N., Aledo‐Serrano, Á., Pringsheim, M., Darra, F., Mayer, T., Gil‐Nagel, A., Polster, T., Zuberi, S. M., Lothe, A., et al. (2022) · Epilepsia Open

Epilepsy research and treatmentDiet and metabolism studies

Cited by 45

Fenfluramine treatment is associated with improvement in everyday executive function in preschool-aged children (<5 years) with Dravet syndrome: A critical period for early neurodevelopment

Bishop, K. I., Isquith, P. K., Gioia, G. A., Knupp, K. G., Scheffer, I. E., Nabbout, R., Specchio, N., Sullivan, J., Auvin, S., Helen Cross, J., et al. (2023) · Epilepsy & Behavior

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 43

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

Akula, S. K., Chen, A. Y., Neil, J. E., Shao, D. D., Mo, A., Hylton, N. K., DiTroia, S., Ganesh, V. S., Smith, R. S., O’Kane, K., et al. (2023) · JAMA Neurology

Fetal and Pediatric Neurological DisordersGenomics and Rare Diseases

Cited by 37

Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis

Guerrini, R., Mei, D., Kerti-Szigeti, K., Pepe, S., Koenig, M. K., Von Allmen, G., Cho, M. T., McDonald, K., Baker, J., Bhambhani, V., et al. (2022) · Brain

ATP Synthase and ATPases ResearchGenetics and Neurodevelopmental Disorders

Cited by 34

Clinical and genetic study of a family with a paternally inherited 15q11–q13 duplication

Marini, C., Cecconi, A., Contini, E., Pantaleo, M., Metitieri, T., Guarducci, S., Giglio, S., Guerrini, R., & Genuardi, M. (2013) · American Journal of Medical Genetics Part A

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 26

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

What is the role of next generation sequencing in status epilepticus?

Guerrini, R., Parrini, E., Marini, C., & Mei, D. (2019) · Epilepsy & Behavior

Epilepsy research and treatmentGenomics and Rare Diseases

Cited by 11