Ictal impending danger – 'sixth sense seizures' – in patients with benign focal epileptic seizures of adolescence

Autor: Antonio Gambardella, Giuseppe Capovilla, Francesca Beccaria, Maurizio Viri, Valentina Dell’Oglio, Rosanna Chifari, Monica Lodi, Antonino Romeo

Publikováno v: Epilepsy Research. 79:90-96

Summary Purpose We describe nine consecutive patients with diagnosis of benign focal epileptic seizures of adolescence (BFSA), who experienced an ictal sensation of impending danger. Materials and methods We collected nine BFSA patients after a compr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4332475ecacfc664519dc0c22b68bef
https://doi.org/10.1016/j.eplepsyres.2007.12.017

Electroclinical Features of a Family with Simple Febrile Seizures and Temporal Lobe Epilepsy Associated with SCN1A Loss-of-Function Mutation

Autor: Antonio Gambardella, Rosanna Chifari, Rita Restano Cassulini, Eleonora Colosimo, Raffaele Canger, Enzo Wanke, Silvana Franceschetti, Raffaela Rusconi, Ferdinanda Annesi, Aldo Quattrone, Maria Paola Canevini, Sara Carrideo, Grazia Annesi, Emanuele Schiavon, Massimo Mantegazza, Angelo Labate

Publikováno v: Epilepsia. 48:1691-1696

Summary: Purpose: To report in detail the electroclinical features of a large family in which we recently identified a missense mutation (M145T) of a well-conserved amino acid in the first transmembrane segment of domain I of the human SCN1A. We show

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::52e3e250e5d79b4268a8a8f4e9a9ee90
https://doi.org/10.1111/j.1528-1167.2007.01153.x

Poster Abstracts

Autor: G. Ferrieri, D. Carmagnola, Roberto Rozza, Rosanna Chifari, Alfredo Gorio, A. Benetti, S. Abati, Diego Lops

Publikováno v: Oral Diseases. 12:13-30

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3081912f3817f6bc41b0d650f8edd857
https://doi.org/10.1111/j.1601-0825.2006.01309.x

Seizures and EEG pattern in Kabuki syndrome

Autor: Rosanna Chifari, Antonino Romeo, Maria Elena Lorenzetti, Cecilia Parazzini, Monica Lodi, Giuseppe Capovilla, Francesca Beccaria, Marta Meloni, Maurizio Viri

Publikováno v: Braindevelopment. 32(10)

Purpose: Kabuki syndrome (KS) is a rare dysmorphogenic disorder that is characterized by multiple congenital abnormalities with central nervous system involvement. The diagnosis is clinical and a variable degree of mental retardation is always presen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f08e09329176f52807e8ac77bc117d2c
https://pubmed.ncbi.nlm.nih.gov/20061104

Electroclinical features of a family with simple febrile seizures and temporal lobe epilepsy associated with SCN1A loss-of-function mutation

Autor: Eleonora, Colosimo, Antonio, Gambardella, Massimo, Mantegazza, Angelo, Labate, Raffaela, Rusconi, Emanuele, Schiavon, Ferdinanda, Annesi, Rita R, Cassulini, Sara, Carrideo, Rosanna, Chifari, Maria Paola, Canevini, Raffaele, Canger, Silvana, Franceschetti, Grazia, Annesi, Enzo, Wanke, Aldo, Quattrone

Publikováno v: Epilepsia (Cph.) 48 (2007): 1691–1696.
info:cnr-pdr/source/autori:Colosimo E, Gambardella A, Mantegazza M, Labate A, Rusconi R, Schiavon E, Annesi F, Cassulini RR, Carrideo S, Chifari R, Canevini MP, Canger R, Franceschetti S, Annesi G, Wanke E, Quattrone A./titolo:Electroclinical features of a family with simple febrile seizures and temporal lobe epilepsy associated with SCN1A loss-of-function mutation./doi:/rivista:Epilepsia (Cph.)/anno:2007/pagina_da:1691/pagina_a:1696/intervallo_pagine:1691–1696/volume:48

PURPOSE: To report in detail the electroclinical features of a large family in which we recently identified a missense mutation (M145T) of a well-conserved amino acid in the first transmembrane segment of domain I of the human SCN1A. We showed that t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::09d73f7f47816264428174fe91b87b1d
https://publications.cnr.it/doc/50044