Maria Roberta Cilio
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View article: Paternal Valproate Use and Neurodevelopmental Disorder and Congenital Malformation Risk in Offspring
Paternal Valproate Use and Neurodevelopmental Disorder and Congenital Malformation Risk in Offspring Open
Importance Limited clinical evidence is available about the risk of neurodevelopmental disorders (NDD), including autism spectrum disorders and congenital malformations (CM), in offspring following paternal exposure to antiseizure medicati…
View article: Insights From the International Consensus on Neuro-Irritability in Pediatric Palliative Care
Insights From the International Consensus on Neuro-Irritability in Pediatric Palliative Care Open
This first international expert consensus aims to support physicians in identifying and addressing neuro-irritability in children with SNI. Our work provides a framework to enhance knowledge on neuro-irritability and advance clinical pract…
View article: Effectiveness of sodium channel blockers in treating neonatal seizures due to arterial ischemic stroke
Effectiveness of sodium channel blockers in treating neonatal seizures due to arterial ischemic stroke Open
Objective Few studies have evaluated the efficacy of antiseizure medications (ASMs) according to the etiology of neonatal acute provoked seizures. We aimed to investigate the response to ASMs in term/near term neonates with acute arterial …
View article: Correction: Free access via computational cloud to deep learning-based EEG assessment in neonatal hypoxic-ischemic encephalopathy: revolutionary opportunities to overcome health disparities
Correction: Free access via computational cloud to deep learning-based EEG assessment in neonatal hypoxic-ischemic encephalopathy: revolutionary opportunities to overcome health disparities Open
View article: Asperger’s syndrome – about time to rename it?
Asperger’s syndrome – about time to rename it? Open
View article: Distinctive Amplitude-Integrated EEG Ictal Pattern and Targeted Therapy with Carbamazepine in KCNQ2 and KCNQ3 Neonatal Epilepsy: A Case Series
Distinctive Amplitude-Integrated EEG Ictal Pattern and Targeted Therapy with Carbamazepine in KCNQ2 and KCNQ3 Neonatal Epilepsy: A Case Series Open
Background Carbamazepine (CBZ) is effective in treating KCNQ2/3-related seizures, which may present with a distinctive amplitude-integrated electroencephalography (aEEG) pattern. Objective To assess how improved recognition of the distinct…
View article: Treatment of seizures in the neonate: Guidelines and consensus‐based recommendations—Special report from the <scp>ILAE</scp> Task Force on Neonatal Seizures
Treatment of seizures in the neonate: Guidelines and consensus‐based recommendations—Special report from the <span>ILAE</span> Task Force on Neonatal Seizures Open
Seizures are common in neonates, but there is substantial management variability. The Neonatal Task Force of the International League Against Epilepsy (ILAE) developed evidence‐based recommendations about antiseizure medication (ASM) manag…
View article: Early recognition of characteristic conventional and amplitude-integrated EEG patterns of seizures in SCN2A and KCNQ3-related epilepsy in neonates
Early recognition of characteristic conventional and amplitude-integrated EEG patterns of seizures in SCN2A and KCNQ3-related epilepsy in neonates Open
Seizures in SCN2A- and KCNQ3-related epilepsy in neonates can usually be recognized by a characteristic ictal aEEG pattern, previously reported only in KCNQ2-related epilepsy, extending this unique feature to other channelopathies. Awarene…
View article: BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients Open
View article: Sudden death in sports. 2018-2020. Argentine Registry
Sudden death in sports. 2018-2020. Argentine Registry Open
Funding Acknowledgements Type of funding sources: None. Introduction The prevalence of Sudden Death in Sports (SDS) is low in relation to other forms of death in the general population. There is little current data about this problem in Ar…
View article: Application of the International League Against Epilepsy Neonatal Seizure Framework to an international panel of medical personnel
Application of the International League Against Epilepsy Neonatal Seizure Framework to an international panel of medical personnel Open
Objective The International League Against Epilepsy (ILAE) Neonatal Seizure Framework was tested by medical personnel. Methods Attendees at the 2016 ILAE European Congress on Epileptology in Prague, the International Video‐EEG Course in Pe…
View article: Clinical and Neurophysiologic Phenotypes in Neonates With <i>BRAT1</i> Encephalopathy
Clinical and Neurophysiologic Phenotypes in Neonates With <i>BRAT1</i> Encephalopathy Open
BRAT1 encephalopathy is a neonatal-onset, rapidly progressive neurologic disorder. Neonates are often misdiagnosed as having hyperekplexia, and many die undiagnosed. The key phenotypic features are multifocal myoclonus, an organized…
View article: Neuromonitoring in neonatal critical care part I: neonatal encephalopathy and neonates with possible seizures
Neuromonitoring in neonatal critical care part I: neonatal encephalopathy and neonates with possible seizures Open
View article: Neuromonitoring in neonatal critical care part II: extremely premature infants and critically ill neonates
Neuromonitoring in neonatal critical care part II: extremely premature infants and critically ill neonates Open
View article: Proceedings of the 13th International Newborn Brain Conference: Neonatal Neurocritical Care, Seizures, and Continuous EEG monitoring
Proceedings of the 13th International Newborn Brain Conference: Neonatal Neurocritical Care, Seizures, and Continuous EEG monitoring Open
OBJECTIVE:We assessed the impact of early enteral feeding introduction during therapeutic hypothermia on time to reach full enteral feeding (FEF) and other feeding related outcomes in infants born at ≥35 weeks gestational age and diagnosed…
View article: Proceedings of the 13th International Newborn Brain Conference: Other forms of brain monitoring, such as NIRS, fMRI, biochemical
Proceedings of the 13th International Newborn Brain Conference: Other forms of brain monitoring, such as NIRS, fMRI, biochemical Open
Hypoxic ischaemic encephalopathy (HIE), an important complication of perinatal asphyxia, remains a major health burden.Neonates are classifi ed using the Sarnat score and neonates >35 weeks with moderate/ severe HIE are treated with therap…
View article: Why monitor the neonatal brain—that is the important question
Why monitor the neonatal brain—that is the important question Open
View article: Seizure Severity and Treatment Response in Newborn Infants with Seizures Attributed to Intracranial Hemorrhage
Seizure Severity and Treatment Response in Newborn Infants with Seizures Attributed to Intracranial Hemorrhage Open
View article: Disorders of Neuronal Migration/Organization Convey the Highest Risk of Neonatal Onset Epilepsy Compared With Other Congenital Brain Malformations
Disorders of Neuronal Migration/Organization Convey the Highest Risk of Neonatal Onset Epilepsy Compared With Other Congenital Brain Malformations Open
View article: Characteristics of Neonates with Cardiopulmonary Disease Who Experience Seizures: A Multicenter Study
Characteristics of Neonates with Cardiopulmonary Disease Who Experience Seizures: A Multicenter Study Open
View article: Neonatal presentation of genetic epilepsies: Early differentiation from acute provoked seizures
Neonatal presentation of genetic epilepsies: Early differentiation from acute provoked seizures Open
Objective Although most seizures in neonates are due to acute brain injury, some represent the first sign of neonatal onset genetic epilepsies. Delay in recognition and lack of expert assessment of neonates with epilepsy may result in wors…
View article: Seizure Control in Neonates Undergoing Screening vs Confirmatory EEG Monitoring
Seizure Control in Neonates Undergoing Screening vs Confirmatory EEG Monitoring Open
This study provides Class III evidence that for neonates a screening cEEG approach, compared to a confirmatory EEG approach, increases the probability of successful treatment of acute seizures.
View article: The ILAE classification of seizures and the epilepsies: Modification for seizures in the neonate. Position paper by the ILAE Task Force on Neonatal Seizures
The ILAE classification of seizures and the epilepsies: Modification for seizures in the neonate. Position paper by the ILAE Task Force on Neonatal Seizures Open
Seizures are the most common neurological emergency in the neonatal period and in contrast to those in infancy and childhood, are often provoked seizures with an acute cause and may be electrographic‐only. Hence, neonatal seizures may not …
View article: Graph theory in paediatric epilepsy: A systematic review
Graph theory in paediatric epilepsy: A systematic review Open
Graph theoretical studies have been designed to investigate network topologies during life. Network science and graph theory methods may contribute to a better understanding of brain function, both normal and abnormal, throughout developme…
View article: Genotype-phenotype correlations in patients with de novo <i>KCNQ2</i> pathogenic variants
Genotype-phenotype correlations in patients with de novo <i>KCNQ2</i> pathogenic variants Open
Early identification of de novo variants in patients with epilepsy raises prognostic issues toward optimal management. We analyzed the clinical and genetic information from a cohort of patients with de novo pathogenic variants to dissect g…
View article: Vomiting and retching as presenting signs of focal epilepsy in children
Vomiting and retching as presenting signs of focal epilepsy in children Open
Ictal vomiting is a rare condition easily misdiagnosed as a common disease. We report two children presenting with retching and vomiting as the main ictal manifestation. Patient 1 was a four‐year‐old girl with a history of daily nocturnal …
View article: A Novel Kv7.3 Variant in the Voltage-Sensing S4 Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and in vitro Rescue by β-Hydroxybutyrate
A Novel Kv7.3 Variant in the Voltage-Sensing S4 Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and in vitro Rescue by β-Hydroxybutyrate Open
Pathogenic variants in KCNQ2 and KCNQ3, paralogous genes encoding Kv7.2 and Kv7.3 voltage-gated K+ channel subunits, are responsible for early-onset developmental/epileptic disorders characterized by heterogeneous …
View article: Characterization of Death in Infants With Neonatal Seizures
Characterization of Death in Infants With Neonatal Seizures Open
View article: Associations between Infant and Parent Characteristics and Measures of Family Well-Being in Neonates with Seizures: A Cohort Study
Associations between Infant and Parent Characteristics and Measures of Family Well-Being in Neonates with Seizures: A Cohort Study Open
View article: Response to cannabidiol in epilepsy of infancy with migrating focal seizures associated with KCNT1 mutations: An open-label, prospective, interventional study
Response to cannabidiol in epilepsy of infancy with migrating focal seizures associated with KCNT1 mutations: An open-label, prospective, interventional study Open