N
Nicola Pietrafusa
Researcher at Boston Children's Hospital
Publications - 50
Citations - 722
Nicola Pietrafusa is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Epilepsy & Status epilepticus. The author has an hindex of 10, co-authored 44 publications receiving 374 citations. Previous affiliations of Nicola Pietrafusa include University of Bari.
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Characterisation of CASPR2 deficiency disorder--a syndrome involving autism, epilepsy and language impairment.
Pedro Rodenas-Cuadrado,Nicola Pietrafusa,T. Francavilla,Angela La Neve,Pasquale Striano,Sonja C. Vernes +5 more
TL;DR: It is proposed that CASPR2 loss produces a syndrome involving early-onset refractory epilepsy, intellectual disability, language impairment and autistic features that can be recognized as CASPR 2 deficiency disorder.
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Claustrum damage and refractory status epilepticus following febrile illness
Stefano Meletti,Jana Slonková,Iva Mareckova,Giulia Monti,Nicola Specchio,Petr Hon,Giada Giovannini,Václav Marcián,A Chiari,Petr Krupa,Nicola Pietrafusa,Dagmar Beránková,Michal Bar +12 more
TL;DR: This is a hypothesis-generating study of a preliminary nature supporting the role of the claustrum in postfebrile de novo SE; future prospective studies are needed to delineate the specificity of this condition, its pathogenesis, and the etiology.
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Photosensitivity is an early marker of neuronal ceroid lipofuscinosis type 2 disease.
Nicola Specchio,Marcello Bellusci,Nicola Pietrafusa,Marina Trivisano,Luca De Palma,Federico Vigevano +5 more
TL;DR: Early clinical, magnetic resonance imaging (MRI), and electroencephalographic (EEG) characteristics of neuronal ceroid lipofuscinosis type 2 (CLN2) disease are identified to enable early diagnosis, thus providing the key to early treatment, and optimized care and outcomes.
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New-onset refractory status epilepticus and febrile infection-related epilepsy syndrome.
TL;DR: No specific therapy for FIRES and NORSE currently exists; high doses of barbiturates and ketogenic diet can be used with some effectiveness, and anakinra and tocilizumab, targeting interleukin pathways, have emerged as potential specific therapies.
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Genetic and forensic implications in epilepsy and cardiac arrhythmias: a case series
Sara Partemi,Monica Coll Vidal,Monica Coll Vidal,Pasquale Striano,Oscar Campuzano,Catarina Allegue,Marianna Pezzella,Maurizio Elia,Pasquale Parisi,Vincenzo Belcastro,Susanna Casellato,Lucio Giordano,Massimo Mastrangelo,Nicola Pietrafusa,Salvatore Striano,Federico Zara,Amedeo Bianchi,Daniela Buti,Angela La Neve,Carlo Alberto Tassinari,Antonio Oliva,Ramon Brugada +21 more
TL;DR: Genetic analysis, applied also in post-mortem setting, could be very useful to identify genetic factors that predispose epileptic patients to sudden death, helping to prevent sudden death in patients with epilepsy.