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Emmanuel Raffo

Observed names: E Raffo, E. Raffo, Emmanuel Pascal Raffo, RAFFO, Emmanuel Pascal, Raffo, E., Raffo, Emmanuel, Raffo, Emmanuel Pascal
Observed institutions: Centre National de la Recherche Scientifique, Albert Einstein College of Medicine, Inserm, Yeshiva University, Université Paris Cité, Sorbonne Université, Hôpital Rothschild, Assistance Publique – Hôpitaux de Paris, Centre Hospitalier Régional et Universitaire de Nancy, Hôpital d'Enfants, Pitié-Salpêtrière Hospital, Fondation Ophtalmologique Adolphe de Rothschild, Fondation de Rothschild, Institut du Cerveau, Nutrition-Génétique et Exposition aux Risques Environnementaux, Développement, Adaptation et Handicap, ERN EpiCARE, Université Henri Poincaré, Université de Strasbourg, Université de Lorraine
ORCID: 0009-0004-3651-8706
Observed ORCID: 0009-0004-3651-8706
OpenAlex ID: A5080846076
Mutation update for the CSB / ERCC6 and CSA / ERCC8 genes involved in Cockayne syndrome
2009 · V. Laugel, C. Dalloz, et al. · Human Mutation · 242
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De novo mutations in HCN1 cause early infantile epileptic encephalopathy
2014 · Caroline Nava, Carine Dalle, et al. · Nature Genetics · 241
Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life
2014 · Julien Thevenon, Mathieu Milh, et al. · The American Journal of Human Genetics · 147
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A pulse rapamycin therapy for infantile spasms and associated cognitive decline
2011 · Emmanuel Raffo, Antonietta Coppola, et al. · Neurobiology of Disease · 140
A model of symptomatic infantile spasms syndrome
2009 · Morris H. Scantlebury, Aristea S. Galanopoulou, et al. · Neurobiology of Disease · 137
Unusual cutaneous features associated with a heterozygous gain-of-function mutation inIFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes
2015 · A.-C. Bursztejn, T.A. Briggs, et al. · British Journal of Dermatology · 88
Surgical treatment of hypothalamic hamartomas
2020 · Pierre Bourdillon, S. Ferrand-Sorbet, et al. · Neurosurgical Review · 70
Mutation of SLC9A1, encoding the major Na+/H+ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome
2014 · C. Guissart, X. Li, et al. · Human Molecular Genetics · 49
Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease
2010 · Gaetan Lesca, Nadia Boutry‐Kryza, et al. · Epilepsia · 47
Pure de-novo 5 Mb duplication at Xp11.22–p11.23 in a male: phenotypic and molecular characterization
2006 · C. Bonnet, M. J. Grégoire, et al. · Journal of Human Genetics · 46
Ketogenic diet exhibits neuroprotective effects in hippocampus but fails to prevent epileptogenesis in the lithium‐pilocarpine model of mesial temporal lobe epilepsy in adult rats
2010 · Benjamin Linard, Arielle Ferrandon, et al. · Epilepsia · 41
Detection of brain somatic mutations in focal cortical dysplasia during epilepsy presurgical workup
2023 · Rayann Checri, Mathilde Chipaux, et al. · Brain Communications · 38
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Modeling new therapies for infantile spasms
2010 · Lenka Chudomelova, Morris H. Scantlebury, et al. · Epilepsia · 34
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Biotinidase deficiency mimicking neuromyelitis optica beginning at the age of 4: A treatable disease
2016 · Barbara Girard, Chrystèle Bonnemains, et al. · Multiple Sclerosis Journal · 31
Calorie‐restricted ketogenic diet increases thresholds to all patterns of pentylenetetrazol‐induced seizures: Critical importance of electroclinical assessment
2007 · Emmanuel Raffo, Jennifer François, et al. · Epilepsia · 28
Posterior glucose hypometabolism in Lafora disease: Early and late FDG‐PET assessment
2010 · Melanie Jennesson, Mathieu Milh, et al. · Epilepsia · 23
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Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) gene
2008 · C. Bonnet, M.-J. Grégoire, et al. · Journal of Human Genetics · 19
Whole-body MR imaging in suspected physical child abuse: comparison with skeletal survey and bone scintigraphy findings from the PEDIMA prospective multicentre study
2021 · Maïa Proisy, Pierre-Hugues Vivier, et al. · European Radiology · 18
Bitemporal form of partial reading epilepsy: Further evidence for an idiopathic localization‐related syndrome
2009 · Louis Maillard, Jean‐Pierre Vignal, et al. · Epilepsia · 17
Évaluation des besoins en éducation thérapeutique auprès des parents d’enfants et d’adolescents ayant une épilepsie
2012 · B. Desnous, E. Bourel-Ponchel, et al. · Revue Neurologique · 16
Neurobehavioral maturation of offspring from epileptic dams: Study in the rat lithium–pilocarpine model
2009 · Emmanuel Raffo, Anne Pereira de Vasconcelos, et al. · Experimental Neurology · 14
Impact du dépistage anténatal des agénésies du corps calleux sur le devenir des grossesses. Étude de 155 dossiers de 2000 à 2006
2010 · A. Isapof, V. Kieffer, et al. · Archives de Pédiatrie · 12
Mort subite du nourrisson: des pistes de recherche aux réalités du terrain
2007 · P. Monin, E. Raffo, et al. · Archives de Pédiatrie · 8
Postnatal Maturation of Cytochrome Oxidase and Lactate Dehydrogenase Activity and Age-Dependent Consequences of Lithium-Pilocarpine Status Epilepticus in the Rat: A Regional Histoenzymology Study
2004 · Emmanuel Raffo, Estelle Koning, et al. · Pediatric Research · 8
Focal polymicrogyria in children: Contribution of invasive explorations and epileptogenicity mapping in the surgical decision
2021 · Claudine Sculier, Delphine Taussig, et al. · Seizure · 7
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Works count: 67
Citation count: 1,569
H-index: 18
I10-index: 22
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