Emmanuel Raffo

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

Caroline Nava, Carine Dalle, Agnès Rastetter et al. · Nature Genetics · 2014 · 230 citations · Full text

Genetic Disorder, Genetics, Neuroscience +4

A pulse rapamycin therapy for infantile spasms and associated cognitive decline

Emmanuel Raffo, Antonietta Coppola, Tomonori Ono et al. · Neurobiology of Disease · 2011 · 139 citations · Full text

Medicine, Neuromodulation Therapies, Pediatrics +7

A model of symptomatic infantile spasms syndrome

Morris H. Scantlebury, Aristea S. Galanopoulou, Lenka Chudomelova et al. · Neurobiology of Disease · 2009 · 136 citations · Full text

Neurological Disorder, Pediatrics, Symptomatic Infantile Spasms +5

Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life

Julien Thévenon, Mathieu Milh, François Feillet et al. · The American Journal of Human Genetics · 2014 · 133 citations · Full text

First Days, Neurobiology Of Disease, Neurological Disorder +10

Unusual cutaneous features associated with a heterozygous gain-of-function mutation in<i>IFIH1</i>: overlap between Aicardi-Goutières and Singleton-Merten syndromes

A.‐C. Bursztejn, Tracy A. Briggs, Yoandris del Toro Duany et al. · British Journal of Dermatology · 2015 · 86 citations · Full text

Disease Etiology, Genetics, Immunology +28