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Dive into the research topics where Dario Pruna is active.

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Featured researches published by Dario Pruna.


American Journal of Human Genetics | 2006

Increased Sensitivity of the Neuronal Nicotinic Receptor α2 Subunit Causes Familial Epilepsy with Nocturnal Wandering and Ictal Fear

Paolo Aridon; Carla Marini; Chiara Di Resta; Elisa Brilli; Maurizio De Fusco; Fausta Politi; Elena Parrini; Irene Manfredi; Tiziana Pisano; Dario Pruna; Giulia Curia; Carlo Cianchetti; Massimo Pasqualetti; Andrea Becchetti; Renzo Guerrini; Giorgio Casari

Sleep has traditionally been recognized as a precipitating factor for some forms of epilepsy, although differential diagnosis between some seizure types and parasomnias may be difficult. Autosomal dominant frontal lobe epilepsy is characterized by nocturnal seizures with hyperkinetic automatisms and poorly organized stereotyped movements and has been associated with mutations of the alpha 4 and beta 2 subunits of the neuronal nicotinic acetylcholine receptor. We performed a clinical and molecular genetic study of a large pedigree segregating sleep-related epilepsy in which seizures are associated with fear sensation, tongue movements, and nocturnal wandering, closely resembling nightmares and sleep walking. We identified a new genetic locus for familial sleep-related focal epilepsy on chromosome 8p12.3-8q12.3. By sequencing the positional candidate neuronal cholinergic receptor alpha 2 subunit gene (CHRNA2), we detected a heterozygous missense mutation, I279N, in the first transmembrane domain that is crucial for receptor function. Whole-cell recordings of transiently transfected HEK293 cells expressing either the mutant or the wild-type receptor showed that the new CHRNA2 mutation markedly increases the receptor sensitivity to acetylcholine, therefore indicating that the nicotinic alpha 2 subunit alteration is the underlying cause. CHRNA2 is the third neuronal cholinergic receptor gene to be associated with familial sleep-related epilepsies. Compared with the CHRNA4 and CHRNB2 mutations reported elsewhere, CHRNA2 mutations cause a more complex and finalized ictal behavior.


Epilepsia | 2005

Abnormal Phonologic Processing in Familial Lateral Temporal Lobe Epilepsy Due to a New LGI1 Mutation

Tiziana Pisano; Carla Marini; Paola Brovedani; Daniela Brizzolara; Dario Pruna; Davide Mei; Francesca Moro; Carlo Cianchetti; Renzo Guerrini

Summary:  Purpose: Autosomal dominant lateral temporal lobe epilepsy (ADLTLE) is a rare familial epilepsy with onset in adolescence or early adulthood, associated with mutations of LGI1 in most families. We describe the clinical, neuropsychological, and molecular genetic study of a new ADLTLE Italian family.


Epilepsy Research | 2011

Benign convulsions associated with mild gastroenteritis: a multicenter clinical study.

Alberto Verrotti; Giuliana Nanni; Sergio Agostinelli; Pasquale Parisi; Giuseppe Capovilla; Francesca Beccaria; Paola Iannetti; Alberto Spalice; Giangennaro Coppola; Emilio Franzoni; Valentina Gentile; Susanna Casellato; Pierangelo Veggiotti; Sara Malgesini; Giovanni Crichiutti; Paolo Balestri; Salvatore Grosso; Nelia Zamponi; Gemma Incorpora; Salvatore Savasta; Paola Costa; Dario Pruna; Francesco Chiarelli

PURPOSE To assess the clinical characteristics and the outcome of benign convulsions associated with mild gastroenteritis (CwG) in Italian children. METHODS We studied clinical and EEG features of 128 children with CwG who were hospitalized between January 2004 and February 2008 and then followed for at least 12 months in 14 Italian centers. RESULTS Age at onset ranged from 6 to 60 months. The seizures were generalized in 73 cases (57%), only focal in 16 (12.5%), and secondarily generalized in 39 (30.5%). The duration of the seizures was under 5 min in 97 patients (75.8%), between 5 and 30 min in 26 (20.3%), and longer than 30 min in 5 (3.9%). Seventy-three participants (57%) had 2 or more seizures, which recurred within 24-48 h. In the acute phase, antiepileptic drugs were used in 72 patients (56.3%). Although interictal abnormalities were present in EEG of 28 children (21.9%), these reverted to normal. During the follow up period, only 6 patients (4.7%) suffered from recurrence of CwG, 7 (5.5%) suffered from simple febrile seizures, and 3 (2.3%) developed epilepsy. CONCLUSIONS Recognition of CwG in children allows pediatricians to avoid extensive evaluations and continuous antiepileptic therapy and to reassure parents regarding the lack of long-term complications.


Epilepsia | 2009

Italian Consensus Conference on Epilepsy and Pregnancy, Labor and Puerperium

Umberto Aguglia; Giancarlo Barboni; Dina Battino; Giovan Battista Cavazzuti; Angela Citernesi; Roberto Corosu; Francesco Guzzetta; Paola Iannetti; Daniela Mamoli; Alfredo Patella; Lorenzo Pavone; Emilio Perucca; Francesco Primiero; Dario Pruna; Salvatore Savasta; Luigi M. Specchio; Alberto Verrotti

To facilitate an integrated and rational approach to the care of women with epilepsy of childbearing potential, a group of experts appointed by Italian scientific societies in the fields of epileptology, neonatology, pediatrics, neuropediatrics, child neuropsychiatry, obstetrics, and gynecology held a joint meeting in Santa Trada di Cannitello, Reggio Calabria, Italy, on October 15–16, 2004, with the aim of reaching consensus on the optimal management of these women. An ad hoc system for the classification of available published evidence and the opinions of experts was developed and used to grade recommendations on different aspects related to counseling, diagnostic, and treatment issues. The present document summarizes available evidence on the reciprocal interactions between epilepsy, antiepileptic drugs, fertility, contraception, pregnancy, delivery, breastfeeding, and the offspring. Recommendations are made concerning the information and counseling that should be provided to women with epilepsy with respect to issues related to contraception, conception, pregnancy, labour, and puerperium. More detailed recommendations on the same issues are provided to physicians and other healthcare professionals involved in the care of these women, with special reference to choice of effective contraception, optimization of antiepileptic drug therapy, use of prenatal diagnostic tests and other monitoring procedures, and appropriate management practices in relation to childbirth, puerperium, and the care of the child.


Epilepsy Research | 2016

Effectiveness and tolerability of perampanel in children and adolescents with refractory epilepsies—An Italian observational multicenter study

P. De Liso; Federico Vigevano; Nicola Specchio; L. De Palma; Paolo Bonanni; E. Osanni; Giangennaro Coppola; Pasquale Parisi; Salvatore Grosso; Alberto Verrotti; Alberto Spalice; Francesco Nicita; Nelia Zamponi; S. Siliquini; Lucio Giordano; Paola Martelli; Renzo Guerrini; Anna Rosati; Lucrezia Ilvento; V. Belcastro; Pasquale Striano; Maria Stella Vari; Giuseppe Capovilla; Francesca Beccaria; O. Bruni; A. Luchetti; Giuseppe Gobbi; Antonio Russo; Dario Pruna; A.E. Tozzi

PURPOSE To evaluate the efficacy and tolerability of Perampanel (PER) in children and adolescents with refractory epilepsies in daily clinical practice conditions. PATIENTS AND METHODS This Italian multicenter retrospective observational study was performed in 16 paediatric epilepsy centres. Inclusion criteria were: (i) ≤18 years of age, (ii) history of refractory epilepsy, (iii) a follow-up ≥5 months of PER add-on therapy. Exclusion criteria were: (i) a diagnosis of primary idiopathic generalized epilepsy, (ii) variation of concomitant AEDs during the previous 4 weeks. Response was defined as a ≥50% reduction in monthly seizure frequency compared with the baseline. RESULTS 62 patients suffering from various refractory epilepsies were included in this study: 53% were males, the mean age was 14.2 years (range 6-18 years), 8 patients aged <12 years. Mean age at epilepsy onset was 3.4 years and the mean duration of epilepsy was 10.8 years (range 1-16), which ranged from 2 seizures per-month up to several seizures per-day (mean number=96.5). Symptomatic focal epilepsy was reported in 62.9% of cases. Mean number of AEDs used in the past was 7.1; mean number of concomitant AEDs was 2.48, with carbamazepine used in 43.5% of patients. Mean PER daily dose was 7.1mg (2-12mg). After an average of 6.6 months of follow-up (5-13 months), the retention rate was 77.4% (48/62). The response rate was 50%; 16% of patients achieved ≥75% seizure frequency reduction and 5% became completely seizure free. Seizure aggravation was observed in 9.7% of patients. Adverse events were reported in 19 patients (30.6%) and led to PER discontinuation in 4 patients (6.5%). The most common adverse events were behaviour disturbance (irritability and aggressiveness), dizziness, sedation and fatigue. CONCLUSION PER was found to be a safe and effective treatment when used as adjunctive therapy in paediatric patients with uncontrolled epilepsy.


European Journal of Paediatric Neurology | 2015

Paediatric anti-N-methyl-d-aspartate receptor encephalitis: The first Italian multicenter case series

Stefano Sartori; Margherita Nosadini; Elisabetta Cesaroni; Raffaele Falsaperla; Giuseppe Capovilla; Francesca Beccaria; Maria Margherita Mancardi; Giuseppe Santangelo; Leandra Giunta; Clementina Boniver; Gaetano Cantalupo; Alberto Cappellari; Paola Costa; Bernardo Dalla Bernardina; Robertino Dilena; Maria Grazia Natali Sora; Maria Federica Pelizza; Dario Pruna; Domenico Serino; Francesca Vanadia; Federico Vigevano; Nelia Zamponi; Caterina Zanus; Irene Toldo; Agnese Suppiej

BACKGROUND Given the rarity of this condition, especially in children, there is a paucity of large reported paediatric case series of anti-N-methyl-d-aspartate receptor encephalitis. METHODS To contribute to define the features of this condition, we describe retrospectively a new nationwide case series of 20 children (50% females), referred by 13 Italian centres. RESULTS Mean age at onset was 8 years (range 3-17). Prodromal symptoms were reported in 31.6%; onset was with neurological symptoms in 70%, and with behavioural/psychiatric disturbances in 30%. Most patients developed a severe clinical picture (90%), and 41% experienced medical complications; children 12-18 years old seemed to be more severe and symptomatic than younger patients. All children received first-line immune therapy; second-line treatment was administered to 45%. Relapses occurred in 15%. At last follow-up (mean 23.9 months, range 5-82), 85% patients had mRS 0-1; this rate was higher among older patients, and in those receiving first immune therapy within 1 month. CONCLUSIONS Our case series confirms a symptomatologic core of paediatric anti-N-methyl-d-aspartate receptor encephalitis, even though displaying some distinctive features that may be explained by a specific genetic background or by the limited number of patients. The growing incidence of this condition, the relative age-dependent variability of its manifestations, the availability of immunotherapy and the possible better outcome with early treatment impose a high index of clinical suspicion be maintained. In the absence of data suggesting other specific etiologies, paediatricians should consider this diagnosis for children presenting with neurological and/or behavioural or psychiatric disturbances, regardless of age and gender.


Epilepsia | 2013

Early onset absence epilepsy with onset in the first year of life: A multicenter cohort study.

Lucio Giordano; Aglaia Vignoli; Raffaella Cusmai; Pasquale Parisi; Massimo Mastrangelo; Giangennaro Coppola; Duccio Maria Cordelli; Patrizia Accorsi; Giuseppe Milito; Francesca Darra; Dario Pruna; Vincenzo Belcastro; Alberto Verrotti; Pasquale Striano

Absence epilepsy with onset before age 4 years, or early onset absence epilepsy (EOAE), has been rarely reported, and children with onset in the first year of life are considered almost exceptional. We aimed to report the clinical and electrophysiologic features of a cohort of children with absence epilepsy starting within the first year of life.


Journal of Child Neurology | 2008

Megalencephaly, Polymicrogyria, and Hydrocephalus (MPPH) Syndrome: A New Case With Syndactyly

Tiziana Pisano; Marta Meloni; Carlo Cianchetti; Melania Falchi; Annalisa Nucaro; Dario Pruna

Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome is characterized by megalencephaly, perisylvian polymicrogyria, postaxial polydactyly, and hydrocephalus. Seven cases have been reported. This report presents a new sporadic patient with megalencephaly, polymicrogyria, and hydrocephalus syndrome, a girl born to healthy, nonconsanguineous parents at 38 weeks. Macrocephaly (+4 standard deviation) was present at birth. She had syndactyly instead of the postaxial polydactyly reported in the other patients. Neurologic examination showed severe diffuse hypotonia and profound developmental delay. Magnetic resonance imaging revealed enlarged lateral and third ventricles, with cavum septi pellucidi et vergae, bilateral abnormal white matter intensity, and diffuse polymicrogyria, most prominent in both the frontal and perisylvian regions. A visual evoked potential study showed increased latencies, probably caused by white matter abnormalities. At 16 months, she has never had seizures and shows profound psychomotor retardation. Results of metabolic and genetic studies were normal.


Epileptic Disorders | 2013

Pure epileptic headache and related manifestations: a video-EEG report and discussion of terminology

Carlo Cianchetti; Dario Pruna; Lucia Porcu; Maria Teresa Peltz; Maria Giuseppina Ledda

We present the first video-EEG recording of episodes of “epileptic headache”. The case reported is that of a 9-year-old girl with brief episodes (of a few minutes) of severe frontal headache, which corresponded to the presence of concurrent spikes and slowwaves, starting in the right temporal area. A dysplastic lesion of the right temporal lobe was observed by MRI and the patient received surgery, with subsequent disappearance of headaches. This case highlights ictal EEG as the main diagnostic tool for epileptic headache. We discuss the terminology regarding this type of manifestation and believe that cases without subsequent epileptic manifestations, as in the present case, should be more appropriately referred to as “pure ictal epileptic headache” or simply “pure epileptic headache”.


Epilepsy Research | 2002

Low-dose lamotrigine in West syndrome

Carlo Cianchetti; Dario Pruna; Giangennaro Coppola; Antonio Pascotto

Three infants affected with symptomatic West syndrome (WS), unresponsive to gamma-vinyl-GABA and to ACTH (first line drugs for WS), were rapidly cured with very small doses of lamotrigine (LTG). This suggests the advisability of a trial with low-dose LTG, at least in symptomatic WS resistant to one or two first line drugs. Moreover, it may be of speculative interest as regards pathogenetic mechanisms in some cases of WS.

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Pasquale Parisi

Sapienza University of Rome

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Alberto Spalice

Sapienza University of Rome

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