Renzo Guerrini

Research interests

Publications

• The ILAE consensus classification of focal cortical dysplasia: An update proposed by an ad hoc task force of the ILAE diagnostic methods commission

  Epilepsia · 2022 · https://doi.org/10.1111/epi.17301

• White matter abnormalities across different epilepsy syndromes in adults: an ENIGMA-Epilepsy study

  Brain · 2020 · https://doi.org/10.1093/brain/awaa200

• Seizure outcome and use of antiepileptic drugs after epilepsy surgery according to histopathological diagnosis: a retrospective multicentre cohort study

  The Lancet Neurology · 2020 · https://doi.org/10.1016/s1474-4422(20)30220-9

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

  The Lancet · 2019 · 10.1016/s0140-6736(19)32500-0

• Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

  The American Journal of Human Genetics · 2019 · https://doi.org/10.1016/j.ajhg.2019.05.020

• De novo variants in neurodevelopmental disorders with epilepsy

  Nature Genetics · 2018 · 10.1038/s41588-018-0143-7

• Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study

  Brain · 2017 · https://doi.org/10.1093/brain/awx341

• Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery

  New England Journal of Medicine · 2017 · https://doi.org/10.1056/nejmoa1703784

• Definition and diagnostic criteria of sleep-related hypermotor epilepsy

  Neurology · 2016 · https://doi.org/10.1212/wnl.0000000000002666

• The phenotypic spectrum of SCN8A encephalopathy

  Neurology · 2015 · https://doi.org/10.1212/wnl.0000000000001211

• Early and effective treatment of KCNQ 2 encephalopathy

  Epilepsia · 2015 · https://doi.org/10.1111/epi.12984

• The phenotypic spectrum of SCN8A encephalopathy

  Neurology · 2015 · https://doi.org/10.1212/wnl.0000000000001211

• Somatic Mutations in Cerebral Cortical Malformations

  New England Journal of Medicine · 2014 · 10.1056/nejmoa1314432

• Malformations of cortical development: clinical features and genetic causes

  The Lancet Neurology · 2014 · 10.1016/s1474-4422(14)70040-7

• Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

  Nature Genetics · 2013 · 10.1038/ng.2613

• A developmental and genetic classification for malformations of cortical development: update 2012

  Brain · 2012 · https://doi.org/10.1093/brain/aws019

• The clinicopathologic spectrum of focal cortical dysplasias: A consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission1

  Epilepsia · 2010 · https://doi.org/10.1111/j.1528-1167.2010.02777.x

• Early‐onset absence epilepsy caused by mutations in the glucose transporter GLUT1

  Annals of Neurology · 2009 · 10.1002/ana.21724

• Lennox-Gastaut syndrome: a consensus approach on diagnosis, assessment, management, and trial methodology

  The Lancet Neurology · 2008 · 10.1016/s1474-4422(08)70292-8

• Proposed Criteria for Referral and Evaluation of Children for Epilepsy Surgery: Recommendations of the Subcommission for Pediatric Epilepsy Surgery

  Epilepsia · 2006 · 10.1111/j.1528-1167.2006.00569.x

• Epilepsy in children

  The Lancet · 2006 · https://doi.org/10.1016/s0140-6736(06)68182-8

• A developmental and genetic classification for malformations of cortical development

  Neurology · 2005 · 10.1212/01.wnl.0000183747.05269.2d

• Mutations of ARX are associated with striking pleiotropy and consistent genotype–phenotype correlation

  Human Mutation · 2004 · 10.1002/humu.10310

• Terminology and classification of the cortical dysplasias

  Neurology · 2004 · https://doi.org/10.1212/01.wnl.0000114507.30388.7e

• Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex

  Nature Genetics · 2003 · 10.1038/ng1276

• Classification system for malformations of cortical development

  Neurology · 2001 · 10.1212/wnl.57.12.2168

• Lamotrigine and Seizure Aggravation in Severe Myoclonic Epilepsy

  Epilepsia · 1998 · 10.1111/j.1528-1157.1998.tb01413.x

• Dysplasias of cerebral cortex and epilepsy

  Lippincott-Raven eBooks · 1996

Current projects

No projects listed.