Author details

Full Name

Maria Roberta Cilio

Affiliation

ORCID

Career Start Year

1993

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37957241	Asperger's syndrome - about time to rename it?	Pediatr Res	2024
37544258	A novel approach to seizures in neonates.		2023
35365761	Why monitor the neonatal brain-that is the important question.	Pediatr Res	2023
37827512	Distinctive Amplitude-Integrated EEG Ictal Pattern and Targeted Therapy with Carbamazepine in KCNQ2 and KCNQ3 Neonatal Epilepsy: A Case Series.		2023
37655702	Treatment of seizures in the neonate: Guidelines and consensus-based recommendations-Special report from the ILAE Task Force on Neonatal Seizures.	Epilepsia	2023
37344571	BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.	Eur J Hum Genet	2023
36960785	Application of the International League Against Epilepsy Neonatal Seizure Framework to an international panel of medical personnel.		2023
37429183	Early recognition of characteristic conventional and amplitude-integrated EEG patterns of seizures in SCN2A and KCNQ3-related epilepsy in neonates.		2023
37099824	Relationship Between Epileptic Activity and Developmental Outcome in KCNQ2-Related Epilepsy.		2023
36599696	Clinical and Neurophysiologic Phenotypes in Neonates With <i>BRAT1</i> Encephalopathy.	Neurology	2023
34933271	Disorders of Neuronal Migration/Organization Convey the Highest Risk of Neonatal Onset Epilepsy Compared With Other Congenital Brain Malformations.	Pediatr Neurol	2022
35431189	Proceedings of the 13th International Newborn Brain Conference: Neonatal Neurocritical Care, Seizures, and Continuous EEG monitoring.	J Neonatal Perinatal Med	2022
34728234	Characteristics of Neonates with Cardiopulmonary Disease Who Experience Seizures: A Multicenter Study.	J Pediatr	2022
34153113	Neonatal presentation of genetic epilepsies: Early differentiation from acute provoked seizures.	Epilepsia	2021
35860177	Graph theory in paediatric epilepsy: A systematic review.	Dialogues in Clinical Neuroscience	2021
34078719	Seizure Control in Neonates Undergoing Screening vs Confirmatory EEG Monitoring.	Neurology	2021
33522601	The ILAE classification of seizures and the epilepsies: Modification for seizures in the neonate. Position paper by the ILAE Task Force on Neonatal Seizures.	Epilepsia	2021
33013448	A Novel Kv7.3 Variant in the Voltage-Sensing S<sub>4</sub> Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and <i>in vitro</i> Rescue by Î²-Hydroxybutyrate.	Front Physiol	2020
31926846	Response to cannabidiol in epilepsy of infancy with migrating focal seizures associated with KCNT1 mutations: An open-label, prospective, interventional study.	European Journal of Paediatric Neurology	2020
33337326	Vomiting and retching as presenting signs of focal epilepsy in children.	Epileptic Disorders	2020
31533126	Toward the elimination of bias in Pediatric Research.	Pediatr Res	2019
31813518	Neonatal Developmental and Epileptic Encephalopathies.	Seminars in Pediatric Neurology	2019
30605686	Augmented Reticular Thalamic Bursting and Seizures in Scn1a-Dravet Syndrome.	Cell Rep	2019
30460546	Long-Term Safety, Tolerability, and Efficacy of Cannabidiol in Children with Refractory Epilepsy: Results from an Expanded Access Program in the US.	CNS Drugs	2019
30868112	Neonatal seizures: Is there a relationship between ictal electroclinical features and etiology? A critical appraisal based on a systematic literature review.	Epilepsia Open	2019
31177578	Autism and developmental disability caused by KCNQ3 gain-of-function variants.	Ann Neurol	2019
31465153	Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B.	Am J Med Genet A	2019
30737342	Clinical spectrum of <i>STX1B</i>-related epileptic disorders.	Neurology	2019
30790268	Response to antiseizure medications in neonates with acute symptomatic seizures.	Epilepsia	2019
30673603	Augmented Reticular Thalamic Bursting and Seizures in Scn1a-Dravet Syndrome.	Cell Rep	2019
31324323	Genetics of neonatal-onset epilepsies.	Handbook of Clinical Neurology	2019
29844171	Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of epilepsy.	Proceedings of the National Academy of Sciences of the United States of America	2018
30311377	The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria.	Hum Mutat	2018
30182418	Lack of response to quinidine in KCNT1-related neonatal epilepsy.	Epilepsia	2018
29895836	Predictive value of early EEG for seizures in neonates with hypoxic-ischemic encephalopathy undergoing therapeutic hypothermia.	Pediatric Research	2018
29426806	Neonatal epilepsies: Clinical management.	Semin Fetal Neonatal Med	2018
27829512	Treatment Duration After Acute Symptomatic Seizures in Neonates: A Multicenter Cohort Study.	J Pediatr	2017
28558955	Seizures in Preterm Neonates: A Multicenter Observational Cohort Study.	Pediatr Neurol	2017
28733343	Profile of neonatal epilepsies: Characteristics of a prospective US cohort.	Neurology	2017
28667181	<i>DNM1</i> encephalopathy: A new disease of vesicle fission.	Neurology	2017
28926830	A Distinctive Ictal Amplitude-Integrated Electroencephalography Pattern in Newborns with Neonatal Epilepsy Associated with KCNQ2 Mutations.		2017
28139826	Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H.	Epilepsia	2017
27888506	Rapid and safe response to low-dose carbamazepine in neonatal epilepsy.	Epilepsia	2016
27106855	Contemporary Profile of Seizures in Neonates: A Prospective Cohort Study.	J Pediatr	2016
26724101	Cannabidiol in patients with treatment-resistant epilepsy: an open-label interventional trial.	Lancet Neurol	2016
26992889	Current understanding and neurobiology of epileptic encephalopathies.	Neurobiology of Disease	2016
26990884	Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.	PLoS One	2016
26169713	Mild hypothermia and hemorrhagic lesions in neonates with hypoxic-ischemic encephalopathy: experience in an outborn center.	Journal of Maternal-Fetal and Neonatal Medicine	2016
24810087	Symptomatic neonatal seizures followed by febrile status epilepticus: the two-hit hypothesis for the subsequent development of epilepsy.	Journal of Child Neurology	2015
25880994	Early and effective treatment of KCNQ2 encephalopathy.	Epilepsia	2015