Guerrini, Renzo

Epilepsy in children

Guerrini, R. (2006) · The Lancet

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 848

Malformations of cortical development: clinical features and genetic causes

Guerrini, R., & Dobyns, W. B. (2014) · The Lancet Neurology

Fetal and Pediatric Neurological DisordersEpilepsy research and treatment

Cited by 513

Lamotrigine and Seizure Aggravation in Severe Myoclonic Epilepsy

Guerrini, R., Dravet, C., Genton, P., Belmonte, A., Kaminska, A., & Dulac†, O. (1998) · Epilepsia

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 467

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

Appenzeller, S., Balling, R., Barisic, N., Baulac, S., Caglayan, H., Craiu, D., De Jonghe, P., Depienne, C., Dimova, P., Djémié, T., et al. (2014) · The American Journal of Human Genetics

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 439

Somatic mutations in cerebral cortical malformations

Jamuar, S. S., Lam, A.-T. N., Kircher, M., D’Gama, A. M., Wang, J., Barry, B. J., Zhang, X., Hill, R. S., Partlow, J. N., Rozzo, A., et al. (2014) · New England Journal of Medicine

Fetal and Pediatric Neurological DisordersGenomics and Rare Diseases

Cited by 392

Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: a randomised, double-blind, placebo-controlled trial

Lagae, L., Sullivan, J., Knupp, K., Laux, L., Polster, T., Nikanorova, M., Devinsky, O., Cross, J. H., Guerrini, R., Talwar, D., et al. (2019) · The Lancet

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 384

Vagus nerve stimulation: Surgical technique of implantation and revision and related morbidity

Giordano, F., Zicca, A., Barba, C., Guerrini, R., & Genitori, L. (2017) · Epilepsia

Vagus Nerve Stimulation ResearchEpilepsy research and treatment

Cited by 258

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome

Bonaglia, M. C., Giorda, R., Beri, S., De Agostini, C., Novara, F., Fichera, M., Grillo, L., Galesi, O., Vetro, A., Ciccone, R., et al. (2011) · PLoS Genetics

Genomic variations and chromosomal abnormalitiesDNA Repair Mechanisms

Cited by 224

De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

Suls, A., Jaehn, J. A., Kecskés, A., Weber, Y., Weckhuysen, S., Craiu, D. C., Siekierska, A., Djémié, T., Afrikanova, T., Gormley, P., et al. (2013) · The American Journal of Human Genetics

Epilepsy research and treatmentIon channel regulation and function

Cited by 219

SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy

Vlaskamp, D. R. M., Shaw, B. J., Burgess, R., Mei, D., Montomoli, M., Xie, H., Myers, C. T., Bennett, M. F., XiangWei, W., Williams, D., et al. (2019) · Neurology

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 206

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

Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial

Knight, E. M. P., Amin, S., Bahi-Buisson, N., Benke, T. A., Cross, J. H., Demarest, S. T., Olson, H. E., Specchio, N., Fleming, T. R., Aimetti, A. A., et al. (2022) · The Lancet Neurology

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 160

Developmental and epileptic encephalopathies

Scheffer, I. E., Zuberi, S., Mefford, H. C., Guerrini, R., & McTague, A. (2024) · Nature Reviews Disease Primers

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 158

Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications

Johannesen, K. M., Liu, Y., Koko, M., Gjerulfsen, C. E., Sonnenberg, L., Schubert, J., Fenger, C. D., Eltokhi, A., Rannap, M., Koch, N. A., et al. (2022) · Brain

Epilepsy research and treatmentIon channel regulation and function

Cited by 147

Cortical myoclonus in angelman syndrome

Guerrini, R., Bonanni, P., de Lorey, T. M., Serratosa, J. M., Moncla, A., Malzac, P., Dravet, C., Igvet, M. O., Bureau, M., Genton, P., et al. (1996) · Annals of Neurology

Genetic Syndromes and ImprintingEpilepsy research and treatment

Cited by 142

The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures

Burgess, R., Wang, S., McTague, A., Boysen, K. E., Yang, X., Zeng, Q., Myers, K. A., Rochtus, A., Trivisano, M., Gill, D., et al. (2019) · Annals of Neurology

Epilepsy research and treatmentIon channel regulation and function

Cited by 141

Glucose Transporter 1 Deficiency as a Treatable Cause of Myoclonic Astatic Epilepsy

Mullen, S. A., Marini, C., Suls, A., Mei, D., Della Giustina, E., Buti, D., Arsov, T., Damiano, J., Lawrence, K., De Jonghe, P., et al. (2011) · Archives of Neurology

Epilepsy research and treatmentGlycogen Storage Diseases and Myoclonus

Cited by 138

Efficacy and Safety of Fenfluramine for the Treatment of Seizures Associated With Lennox-Gastaut Syndrome: A Randomized Clinical Trial

Knupp, K. G., Scheffer, I. E., Ceulemans, B., Sullivan, J. E., Nickels, K. C., Lagae, L., Guerrini, R., Zuberi, S. M., Nabbout, R., Riney, K., et al. (2022) · JAMA Neurology

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 137

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

Pathogenetic mechanisms of focal cortical dysplasia

Marin‐Valencia, I., Guerrini, R., & Gleeson, J. G. (2014) · Epilepsia

Epilepsy research and treatmentTuberous Sclerosis Complex Research

Cited by 100

CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures

Thomas, R. H., Zhang, L. M., Carvill, G. L., Archer, J. S., Heavin, S. B., Mandelstam, S. A., Craiu, D., Berkovic, S. F., Gill, D. S., Mefford, H. C., et al. (2015) · Neurology

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 100

SCN3A‐Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation

Zaman, T., Helbig, K. L., Clatot, J., Thompson, C. H., Kang, S. K., Stouffs, K., Jansen, A. E., Verstraete, L., Jacquinet, A., Parrini, E., et al. (2020) · Annals of Neurology

Epilepsy research and treatmentIon channel regulation and function

Cited by 94

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

D'Amore, A., Tessa, A., Casali, C., Dotti, M. T., Filla, A., Silvestri, G., Antenora, A., Astrea, G., Barghigiani, M., Battini, R., et al. (2018) · Frontiers in Neurology

Hereditary Neurological DisordersGenomics and Rare Diseases

Cited by 90

Galactosialidosis: review and analysis of CTSA gene mutations

Caciotti, A., Catarzi, S., Tonin, R., Lugli, L., Perez, C. R., Michelakakis, H., Mavridou, I., Donati, M. A., Guerrini, R., d’Azzo, A., et al. (2013) · Orphanet Journal of Rare Diseases

Lysosomal Storage Disorders ResearchMetabolism and Genetic Disorders

Cited by 73