Search Results - "Falchi, Melania"

The hyperkinetic movement disorder of FOXG1‐related epileptic–dyskinetic encephalopathy by Cellini, Elena, Vignoli, Aglaia, Pisano, Tiziana, Falchi, Melania, Molinaro, Anna, Accorsi, Patrizia, Bontacchio, Alessia, Pinelli, Lorenzo, Giordano, Lucio, Guerrini, Renzo, Fusco, Carlo, Bertani, Gianna

“…Aim Forkhead Box G1 (FOXG1) syndrome is a developmental encephalopathy characterized by postnatal microcephaly, structural brain abnormalities, facial…”
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Safety and efficacy of topiramate in neonates with hypoxic ischemic encephalopathy treated with hypothermia (NeoNATI) by Filippi, Luca, Fiorini, Patrizio, Daniotti, Marta, Catarzi, Serena, Savelli, Sara, Fonda, Claudio, Bartalena, Laura, Boldrini, Antonio, Giampietri, Matteo, Scaramuzzo, Rosa, Papoff, Paola, Del Balzo, Francesca, Spalice, Alberto, la Marca, Giancarlo, Malvagia, Sabrina, Della Bona, Maria Luisa, Donzelli, Gianpaolo, Tinelli, Francesca, Cioni, Giovanni, Pisano, Tiziana, Falchi, Melania, Guerrini, Renzo

“…Despite progresses in neonatal care, the mortality and the incidence of neuro-motor disability after perinatal asphyxia have failed to show substantial…”
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Incidence of epilepsy in extremely low‐birthweight infants (<1,000 g): A population study of central and southern Sardinia by Falchi, Melania, Palmas, Giuliana, Pisano, Tiziana, Meloni, Marta, Gaspa, Giorgio, Puddu, Melania, De Martinis, Mattia, Fanos, Vassilios, Cianchetti, Carlo, Pruna, Dario

“…Summary Purpose:  With the development of intensive care, the survival of extremely low‐birthweight (ELBW) infants (<1,000 g) has greatly improved. The aim of…”
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Dravet syndrome and SCN1A gene mutation related‐epilepsies: cognitive impairment and its determinants by GUERRINI, RENZO, FALCHI, MELANIA

“…Some studies have demonstrated that cognitive decline occurs in Dravet syndrome, starting shortly after the onset of seizures, rapidly progressing and then…”
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Safety and efficacy of topiramate in neonates with hypoxic ischemic encephalopathy treated with hypothermia (NeoNATI): a feasibility study by Filippi, Luca, Fiorini, Patrizio, Catarzi, Serena, Berti, Elettra, Padrini, Letizia, Landucci, Elisa, Donzelli, Gianpaolo, Bartalena, Laura, Fiorentini, Erika, Boldrini, Antonio, Giampietri, Matteo, Scaramuzzo, Rosa Teresa, la Marca, Giancarlo, Della Bona, Maria Luisa, Fiori, Simona, Tinelli, Francesca, Bancale, Ada, Guzzetta, Andrea, Cioni, Giovanni, Pisano, Tiziana, Falchi, Melania, Guerrini, Renzo

“…Purpose: To investigate the feasibility of a study based on treatment with topiramate (TPM) added to moderate hypothermia in newborns with hypoxic ischemic…”
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Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy by Barba, Carmen, Darra, Francesca, Cusmai, Raffaella, Procopio, Elena, Dionisi Vici, Carlo, Keldermans, Liesbeth, Vuillaumier‐Barrot, Sandrine, Lefeber, Dirk J, Guerrini, Renzo, Parrini, Elena, Ashikov, Angel, Bordugo, Andrea, Cantalupo, Gaetano, Casara, Gianluca, Bernardina, Bernardo Dalla, Falchi, Melania, Ferri, Lorenzo, Martinelli, Diego, Morrone, Amelia, Race, Valerie, Rosati, Anna, Souche, Erika

“…Aim Epilepsy is commonly observed in congenital disorders of glycosylation (CDG), but no distinctive electroclinical pattern has been recognized. We aimed at…”
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The syndrome of polymicrogyria, thalamic hypoplasia, and epilepsy with CSWS by Bartolini, Emanuele, Falchi, Melania, Zellini, Francesco, Parrini, Elena, Grisotto, Laura, Cosottini, Mirco, Posar, Annio, Parmeggiani, Antonia, Ambrosetto, Giovanni, Ferrari, Anna Rita, Santucci, Margherita, Salas-Puig, Javier, Barba, Carmen, Guerrini, Renzo

“…OBJECTIVE:We explored the long-term follow-up of continuous spike-and-wave complexes during sleep (CSWS) in polymicrogyria and the anatomic volumetric…”
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The hyperkinetic movement disorder of FOXG 1 ‐related epileptic–dyskinetic encephalopathy by Cellini, Elena, Vignoli, Aglaia, Pisano, Tiziana, Falchi, Melania, Molinaro, Anna, Accorsi, Patrizia, Bontacchio, Alessia, Pinelli, Lorenzo, Giordano, Lucio, Guerrini, Renzo

“…Assessment of movement disorder in patients with FOXG1 mutations or copy number variations. FOXG1 syndrome can be defined as an epileptic–dyskinetic…”
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Rapid assay of rufinamide in dried blood spots by a new liquid chromatography–tandem mass spectrometric method by la Marca, Giancarlo, Malvagia, Sabrina, Filippi, Luca, Innocenti, Marzia, Rosati, Anna, Falchi, Melania, Pellacani, Simona, Moneti, Gloriano, Guerrini, Renzo

“…Rufinamide (RUF) is a new antiepiletic drug with efficacy in several types of seizures. The aim of this study was to evaluate the use of dried blood spot (DBS)…”
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Atypical face shape and genomic structural variants in epilepsy by CHINTHAPALLI, Krishna, BARTOLINI, Emanuele, DEPONDT, Chantal, HENNEKAM, Raoul, HAMMOND, Peter, SISODIYA, Sanjay M, NOVY, Jan, SUTTIE, Michael, MARINI, Carla, FALCHI, Melania, FOX, Zoe, CLAYTON, Lisa M. S, SANDER, Josemir W, GUERRINI, Renzo

“…Many pathogenic structural variants of the human genome are known to cause facial dysmorphism. During the past decade, pathogenic structural variants have also…”
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A pharmacokinetic study and correlation with clinical response of rufinamide in infants with epileptic encephalopathies by la Marca, Giancarlo, Rosati, Anna, Falchi, Melania, Malvagia, Sabrina, Della Bona, Maria Luisa, Pellacani, Simona, Guerrini, Renzo

“…To evaluate the relationship between the pharmacokinetic (PK) parameters and therapeutic and adverse effects of rufinamide (RUF) in children with epileptic…”
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Hypothermia for neonatal hypoxic-ischemic encephalopathy: may an early amplitude-integrated EEG improve the selection of candidates for cooling? by Filippi, Luca, Catarzi, Serena, Gozzini, Elena, Fiorini, Patrizio, Falchi, Melania, Pisano, Tiziana, Marca, Giancarlo la, Donzelli, Gianpaolo, Guerrini, Renzo

“…Objective: To report our experience in the selection of newborns candidate to therapeutic hypothermia. Methods: Retrospective study involving 47 newborns…”
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Megalencephaly, Polymicrogyria, and Hydrocephalus (MPPH) Syndrome: A New Case With Syndactyly by Pisano, Tiziana, Meloni, Marta, Cianchetti, Carlo, Falchi, Melania, Nucaro, Annalisa, Pruna, Dario

“…Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome is characterized by megalencephaly, perisylvian polymicrogyria, postaxial polydactyly, and…”
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Contractions in the second polyA tract of ARX are rare, non‐pathogenic polymorphisms by Conti, Valerio, Marini, Carla, Mei, Davide, Falchi, Melania, Ferrari, Anna Rita, Guerrini, Renzo

“…Aristaless related homeobox (ARX) is a transcription factor containing highly conserved octapeptide, homeobox, acidic, and aristaless domains, as well as four…”
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Ring chromosome 14 mosaicism: An unusual case associated with developmental delay and epilepsy, characterized by genome array-CGH by Nucaro, Anna Lisa, Falchi, Melania, Pisano, Tiziana, Rossino, Rossano, Boscarelli, Francesca, Stoico, Giusi, Milia, Angela, Montaldo, Caterina, Cianchetti, Carlo, Pruna, Dario

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Incidence of epilepsy in extremely low-birthweight infants (< 1,000 g) : A population study of central and southern Sardinia: Italian League Against Epilepsy (LICE). Official Reports 2007-2008 and Proceedings of the 29th and 30th National Congresses, Pisa, June, 2006 and Reggio-Calabra, May, 2007 by FALCHI, Melania, PALMAS, Giuliana, PISANO, Tiziana, MELONI, Marta, GASPA, Giorgio, PUDDU, Melania, DE MARTINIS, Mattia, FANOS, Vassilios, CIANCHETTI, Carlo, PRUNA, Dario

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Contractions in the second polyA tract of ARX are rare, non-pathogenic polymorphisms by Conti, Valerio, Marini, Carla, Mei, Davide, Falchi, Melania, Ferrari, Anna Rita, Guerrini, Renzo

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