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Natalio Fejerman
Researcher at Boston Children's Hospital
Publications - 117
Citations - 4766
Natalio Fejerman is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Epilepsy & Ictal. The author has an hindex of 36, co-authored 117 publications receiving 4482 citations. Previous affiliations of Natalio Fejerman include Garrahan Hospital.
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Journal ArticleDOI
Acute disseminated encephalomyelitis: A long-term follow-up study of 84 pediatric patients
TL;DR: Even in relapsing cases, the distinction between acute disseminated encephalomyelitis and MS was possible on the basis of long-term clinical and neuroimaging follow-up and the absence of oligoclonal bands in CSF.
Journal ArticleDOI
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
Johannes R. Lemke,Dennis Lal,Eva M. Reinthaler,Isabelle Steiner,Michael Nothnagel,Michael Alber,Kirsten Geider,Bodo Laube,Michael Schwake,Katrin Finsterwalder,Andre Franke,Markus Schilhabel,Johanna A. Jähn,Hiltrud Muhle,Rainer Boor,Wim Van Paesschen,Roberto Caraballo,Natalio Fejerman,Sarah Weckhuysen,Peter De Jonghe,Jan Larsen,Rikke S. Møller,Helle Hjalgrim,Laura Addis,Shan Tang,Elaine Hughes,Deb K. Pal,Kadi Veri,Ulvi Vaher,Tiina Talvik,Petia Dimova,Rosa Guerrero López,José M. Serratosa,Tarja Linnankivi,Anna-Elina Lehesjoki,Susanne Ruf,Markus Wolff,Sarah E. Buerki,Gabriele Wohlrab,Judith Kroell,Alexandre N. Datta,Barbara Fiedler,Gerhard Kurlemann,Gerhard Kluger,Andreas Hahn,D Edda Haberlandt,Christina Kutzer,Jürgen Sperner,Felicitas Becker,Yvonne G. Weber,Martha Feucht,Hannelore Steinböck,Birgit Neophythou,Gabriel M. Ronen,Ursula Gruber-Sedlmayr,Julia Geldner,Robert J. Harvey,Per Hoffmann,Per Hoffmann,Stefan Herms,Stefan Herms,Janine Altmüller,Mohammad R. Toliat,Holger Thiele,Peter Nürnberg,Christian Wilhelm,Ulrich Stephani,Ingo Helbig,Holger Lerche,Fritz Zimprich,Bernd A. Neubauer,Saskia Biskup,Saskia Biskup,Sarah von Spiczak +73 more
TL;DR: Results establish alterations of the gene encoding the NMDA receptor NR2A subunit as a major genetic risk factor for IFE.
Journal ArticleDOI
Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions
Hsien Yang Lee,Yong Huang,Yong Huang,Nadine Bruneau,Patrice Roll,Elisha D.O. Roberson,Mark Hermann,Emily Quinn,Emily Quinn,James W. Maas,Robert H. Edwards,Tetsuo Ashizawa,Betül Baykan,Kailash P. Bhatia,Susan B. Bressman,Michiko K. Bruno,Michiko K. Bruno,Ewout R. Brunt,Roberto Caraballo,Bernard Echenne,Natalio Fejerman,Steve Frucht,Christina A. Gurnett,Edouard Hirsch,Henry Houlden,Joseph Jankovic,Wei Ling Lee,David A. Lynch,Shehla Mohammed,Ulrich Müller,Mark Nespeca,David Renner,Jacques Rochette,Gabrielle Rudolf,Shinji Saiki,Bing-Wen Soong,Bing-Wen Soong,Kathryn J. Swoboda,Sam Tucker,Nicholas W. Wood,Michael G. Hanna,Anne M. Bowcock,Pierre Szepetowski,Ying-Hui Fu,Louis J. Ptáček,Louis J. Ptáček +45 more
TL;DR: Four truncating mutations involving the gene PRRT2 in the vast majority of well-characterized families with PKD/IC are identified, leading ultimately to neuronal hyperexcitability that manifests in vivo as PKd/IC.
Journal ArticleDOI
Medical treatment of Rasmussen's syndrome (chronic encephalitis and epilepsy) : effect of high-dose steroids or immunoglobulins in 19 patients
Y. M. Hart,Miguel A. Cortez,F. Andermann,Paul A. Hwang,D. R. Fish,Olivier Dulac,Kenneth Silver,Natalio Fejerman,H. Cross,Allan L. Sherwin,R. Caraballo +10 more
TL;DR: Patients with Rasmussen's syndrome treated with intravenous immunoglobulins, high-dose steroids, or both to control seizures and improve the end point of the disease had some reduction of seizure frequency in the short term.
Journal ArticleDOI
Atypical evolutions of benign localization-related epilepsies in children: are they predictable?
TL;DR: It is emphasized that, in some patients, different atypical evolutions occur in the course of so‐called benign focal epilepsies of childhood (BFEC) and to promote interest in finding clinical and/or electroencephalographic clues to which patients might be prone to these risky evolutions.